Case Report: Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

Autor: Marafie, MJ, Al-Mulla, F

Publikováno v: Egyptian Journal of Medical Human Genetics; Vol 15, No 2 (2014); 203-207

Background: Rare autosomal recessive disorders of variable severity are segregating in many highly consanguineous families from the Arab population. One of these deleterious diseases is Senior-Loken syndrome, a hereditary heterogeneous multiorgan dis

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https://www.ajol.info/index.php/ejhg/article/view/103072

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Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.

Autor: Sina M; Genetics Department, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran.; A. Nocivelli Institute for Molecular Medicine, Department of Molecular and Translational Medicine, University of Brescia, 25123, Brescia, Italy., Ghorbanoghli Z; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands. z.ghorbanoghli@gmail.com.; Dutch Hereditary Cancer Registry, Leiden, The Netherlands. z.ghorbanoghli@gmail.com., Abedrabbo A; Department of Pediatrics, Makassed Islamic Charitable Hospital, Jerusalem, Palestine., Al-Mulla F; Department of Genetics and Bioinformatics, Dasman Diabetes Institute, P.O. Box 1180, 15462, Dasman, Kuwait., Sghaier RB; Cytogenetic, Molecular Genetics and Human Reproduction Biology - Farhat, HACHED Hospital, Sousse, Tunisia., Buisine MP; Unit of Molecular Oncology and Genetics, Institute of Biochemistry and Molecular Biology, Lille University Hospital, Lille, France., Cortas G; Department of Gastroenterology, St. George Hospital Medical Center, University of Balamand Medical School, Beirut, Lebanon., Goshayeshi L; Department of Gastroenterology and Hepatology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hadjisavvas A; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Hammoudeh W; Department of Internal Medicine, Arabcare Hospital, Ramallah, Palestine., Hamoudi W; Department of Gastroenterology, The Royal Hospital, Amman, Jordan., Jabari C; Patient's Friends Society, Jerusalem, Palestine.; Hebron University, Hebron, Palestine., Loizidou MA; Department of Electron Microscopy/Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus., Majidzadeh-A K; Genetics Department, Breast Cancer Research Center, Motamed Cancer Institute, ACECR, Tehran, Iran., Marafie MJ; Kuwait Medical Genetics Centre, Maternity Hospital, 13059, Safat, Kuwait., Muslumov G; Colorectal Surgery Department, Scientific Center of Surgery, Baku, Azerbaijan., Rifai L; Centre Hospitalier Universitaire IBN SINA, Rabat Instituts, Institut National D'Oncologie Sidi Mohamed Ben Abdellah, BP 6213, Rabat, Maroc., Seir RA; Al-Quds University, Abu-Dis, Palestine., Talaat SM; Ahmed Maher Teaching Hospital, Cairo, Egypt., Tunca B; Department of Medical Biology, Medical Faculty, Uludag University, Bursa, Turkey., Ziada-Bouchaar H; Laboratory of Biology and Molecular Genetics, Faculty of Medicine, University 3, Rabah Bitat, Constantine, Algeria., Velthuizen ME; Department of Genetics, University Medical Center Utrecht (Location WKZ), Utrecht, the Netherlands., Sharara AI; Division of Gastroenterology, American University of Beirut Medical Centre, Beirut, Lebanon., Ahadova A; Department of Applied Tumour Biology, Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.; Cooperation Unit Applied Tumour Biology, German Cancer Research Center (DKFZ), Heidelberg, Germany., Georgiou D; Department of Clinical Genetics, London North West University Healthcare, London, UK., Vasen HFA; Department of Gastroenterology and Hepatology, Leiden University Medical Center, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.; Dutch Hereditary Cancer Registry, Leiden, The Netherlands.

Publikováno v: Familial cancer [Fam Cancer] 2021 Jul; Vol. 20 (3), pp. 215-221. Date of Electronic Publication: 2020 Oct 24.