Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Autor: Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt., Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt., Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France., Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Firoozfar Z; Palindrome, Isfahan, Iran., Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey., Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France., Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA., Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France., Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France., Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands., Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States., Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA., Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France., Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco., Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco., Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152., Levchenko O; Research Centre for Medical Genetics, Moscow, Russia., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran., Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India., Tawde S; Department of Human Genetics, The University of Chicago, Illinois., Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil., Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK., Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt., Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil., Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Idkaidak S; Al-Quds University, Jerusalem, Palestine., Alqarajeh F; PRCS hospital, Hebron, Palestine., Atawneh O; PRCS hospital, Hebron, Palestine., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil., Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA., Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea., Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA., Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 10, pp. 101251. Date of Electronic Publication: 2024 Sep 10.

Hypomorphic variants of SEL1L-HRD1 ER-associated degradation are associated with neurodevelopmental disorders.

Autor: Wang HH; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and., Lin LL; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and., Li ZJ; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA., Wei X; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and., Askander O; Hopital Cheik Zaïd, Hopital Universitaire International RABAT, Morocco., Cappuccio G; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hubert L; Imagine Institute, INSERM UMR1163, Paris, France.; Université Paris Cité, Paris, France., Munnich A; Imagine Institute, INSERM UMR1163, Paris, France., Alqahtani M; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Pang Q; Department of Neurosurgery, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China., Burmeister M; Michigan Neuroscience Institute and Departments of Computational Medicine & Bioinformatics, Psychiatry, and Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA., Lu Y; Department of Molecular & Integrative Physiology and., Poirier K; Imagine Institute, INSERM UMR1163, Paris, France., Besmond C; Imagine Institute, INSERM UMR1163, Paris, France., Sun S; Department of Pharmacology, University of Virginia, Charlottesville, Virginia, USA., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples Federico II, Naples, Italy.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Qi L; Department of Molecular Physiology and Biological Physics, University of Virginia School of Medicine, University of Virginia, Charlottesville, Virginia, USA.; Department of Molecular & Integrative Physiology and.; Department of Biological Chemistry, University of Michigan Medical School, Ann Arbor, Michigan, USA.

Publikováno v: The Journal of clinical investigation [J Clin Invest] 2024 Jan 16; Vol. 134 (2). Date of Electronic Publication: 2024 Jan 16.

Genetic characterization of Schuurs-Hoeijmakers syndrome in a moroccan individual with heterozygote PACS1 mutation.

Autor: Abbassi M; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco. abbassi.meriame@gmail.com.; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco. abbassi.meriame@gmail.com., Bourmtane A; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco., Sayel H; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco., El Mouhi H; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco.; Engineering Science and Technology Doctoral Study Center, Faculty of Sciences and Technologies, Sidi Mohammed Ben Abdellah University, Fez, Morocco., Jalte M; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.; Faculty of Sciences Dhar El-Mehraz, Sidi Mohamed Ben Abdellah University, Fez, Morocco., Elasri YA; Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco., Askander O; Faculty of Medical Science, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco., El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco., Bouguenouch L; Unit of Medical Genetics and Oncogenetics, University Hospital Hassan II, Fez, Morocco.; Laboratory of Biomedical and Translational Research, Faculty of Medicine and Pharmacy and Dental Medicine, Sidi Mohammed Ben Abdellah University, Fez, Morocco.

Publikováno v: Molecular biology reports [Mol Biol Rep] 2023 Nov; Vol. 50 (11), pp. 9121-9128. Date of Electronic Publication: 2023 Sep 25.

W014 About a case of rhabdomyolysis in a 7 year-old child secondary to a deficiency of very long-chain acyl-coa dehydrogenase (VLCAD)

Autor: Tber, M., Askander, O., Ztoute, M., Bensaad, M., Nader, S., Kabbaj, H., Bentahila, A., Guedira, A.

Publikováno v: In Clinica Chimica Acta 1 May 2022 530 Supplement 1:S220-S220

Novel ITGB2 Mutation Is Responsible for a Severe Form of Leucocyte Adhesion Deficiency Type 1.

Autor: Bouhouche A; Research Team in Neurology and Neurogenetics, Genomics Center of Human Pathologies, Medical School and Pharmacy, Mohammed V University in Rabat, Morocco.; Research Genetics Center of the Cheikh Zaid Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco., Tabache Y; Department of Pediatrics, Abulcasis International University of Health Sciences, Rabat, Morocco.; Centre of childhood Care and Prevention, Cheikh Zaid International Universitary Hospital, Rabat, Morocco., Askander O; Research Genetics Center of the Cheikh Zaid Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco., Charoute H; Research Unit of Epidemiology, Biostatistics and Bioinformatics, Institut Pasteur du Maroc, Casablanca, Morocco., Mesnaoui N; Centre of childhood Care and Prevention, Cheikh Zaid International Universitary Hospital, Rabat, Morocco., Belayachi L; Research Genetics Center of the Cheikh Zaid Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco., El Hafidi N; Department of Pediatric Children Hospital, Medical School and Pharmacy, Mohammed V University in Rabat, Morocco., Hardizi H; Research Genetics Center of the Cheikh Zaid Foundation, Abulcasis International University of Health Sciences, Rabat, Morocco., El Fahime E; Molecular Biology and Functional Genomics Platform, National Center for Scientific and Technical Research, Rabat, Morocco., Erreimi N; Department of Pediatrics, Abulcasis International University of Health Sciences, Rabat, Morocco.; Centre of childhood Care and Prevention, Cheikh Zaid International Universitary Hospital, Rabat, Morocco., Barakat A; Laboratory of Genomics and Human Genetics, Institut Pasteur du Maroc, Casablanca, Morocco., Khattab M; Department of Pediatrics, Abulcasis International University of Health Sciences, Rabat, Morocco.; Centre of childhood Care and Prevention, Cheikh Zaid International Universitary Hospital, Rabat, Morocco., Seghrouchni F; Laboratory of the Cellular Immunology, Institut National d'Hygiène, Rabat, Morocco., El Hassani A; Department of Pediatrics, Abulcasis International University of Health Sciences, Rabat, Morocco.; Centre of childhood Care and Prevention, Cheikh Zaid International Universitary Hospital, Rabat, Morocco.; Department of Pediatric Children Hospital, Medical School and Pharmacy, Mohammed V University in Rabat, Morocco.

Publikováno v: BioMed research international [Biomed Res Int] 2022 Mar 03; Vol. 2022, pp. 1141280. Date of Electronic Publication: 2022 Mar 03 (Print Publication: 2022).