A recurrent mosaic mutation of SMO, encoding the hedgehog signal transducer Smoothened, is the major cause of Curry-Jones syndrome

Autor: Twigg, SRF, Wilkie, AOM, Hufnagel, RB, Miller, KA, Zhou, Y, McGowan, SJ, Taylor, J, Craft, J, Taylor, JC, Santoro, SL, Huang, T, Hopkin, RJ, Brady, AF, Clayton-Smith, J, Clericuzio, CL, Grange, DK, Groesser, L, Hafner, C, Horn, D, Temple, IK, Dobyns, WB, Curry, CJ, Jones, MC

Curry-Jones syndrome (CJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or ham

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::398df20c096adb044cf30378bd57dea9
https://doi.org/10.1016/j.ajhg.2016.04.007

Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.

Autor: Dyment DA; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., O'Donnell-Luria A; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Agrawal PB; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Aleck KA; Department of Genetics and Metabolism, Phoenix Children's Medical Group, Phoenix, Arizona, USA., Antaki D; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Al Sharhan H; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Au PB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey., Beggs AH; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Bilguvar K; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Boerwinkle E; Human Genome Sequencing Center, Baylor College of Medicine, Waco, Texas, USA., Brand H; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Buyske S; Department of Statistics and Biostatistics, Rutgers University, Piscataway, New Jersey, USA., Chodirker B; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Choi J; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Department of Biomedical Sciences, Korea University College of Medicine, Seoul, South Korea., Chudley AE; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Clericuzio CL; Department of Pediatrics, University of New Mexico Health Sciences Center, Albuquerque, New Mexico, USA., Cox GF; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Curry C; University of California, San Francisco, California, USA.; Genetic Medicine, University Pediatric Specialists, Fresno, California, USA., de Boer E; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands., de Vries BBA; Department of Human Genetics, Raboud University Medical Centre, Nijmegen, Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Raboud University Medical Centre, Nijmegen, Netherlands., Dunn K; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Dutmer CM; Children's Hospital Colorado and University of Colorado School of Medicine, Aurora, Colorado, USA., England EM; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA., Fahrner JA; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Geckinli BB; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul, Turkey., Genetti CA; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Gezdirici A; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul, Turkey., Gibson WT; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Gleeson JG; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Greenberg CR; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Hall A; Waisman Center Clinical Genetics, University of Wisconsin, Madison, Wisconsin, USA., Hamosh A; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Hartley T; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Kernohan K; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Lauzon JL; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Lewis MES; Department of Medical Genetics and British Columbia Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada., Lowry RB; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., López-Giráldez F; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, Connecticut, USA., Matise TC; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., McEvoy-Venneri J; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., McInnes B; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada., Mhanni A; Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Manitoba, Canada., Garcia Minaur S; Sección de Genética Clínica, INGEMM (Instituto de Genética Médica y Molecular), Madrid, Spain., Moilanen J; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland., Nguyen A; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Nowaczyk MJM; Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Õunap K; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA., Pajusalu S; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA.; United Laboratories, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, Department of Clinical Genetics, Tartu University Hospital, Tartu, Estonia., Penney LS; Department of Pediatrics, IWK Health Centre, Dalhousie University, Halifax, Nova Scotia, Canada., Poterba T; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, USA., Prontera P; Medical Genetics Unit, Hospital Santa Maria della Misericordia and University of Perugia, Perugia, Italy., Doriqui MJR; Complexo Hospitalar Materno Infantil do MA - Matern, Benedito Leite e Hospital Infantil Juvencio Mattos, Sao Luis, Brazil., Sawyer SL; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Stanley V; Laboratory for Pediatric Brain Disease, Howard Hughes Medical Institute, University of California, San Diego, California, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, California, USA., Torun D; Department of Medical Genetics, Gulhane Military Medical Academy, Ankara, Turkey., Wargowski D; Division of Genetics, Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA., Witmer PD; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA., Wong I; Broad Institute of MIT and Harvard, Broad Center for Mendelian Genomics, Cambridge, Massachusetts, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA.; Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA., Xing J; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zhang Y; Department of Genetics, Human Genetics Institute of New Jersey, Rutgers University, Piscataway, New Jersey, USA., Boycott KM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA., Nickerson DA; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, University of Calgary, Calgary, Alberta, Canada.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jan; Vol. 185 (1), pp. 119-133. Date of Electronic Publication: 2020 Oct 24.

A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Autor: Twigg SRF; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK., Hufnagel RB; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA., Miller KA; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK., Zhou Y; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK., McGowan SJ; Computational Biology Research Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK., Taylor J; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK; Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Churchill Hospital, Oxford OX3 7LE, UK., Craft J; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK., Taylor JC; Wellcome Trust Centre for Human Genetics, Roosevelt Drive, University of Oxford, Oxford OX3 7BN, UK; Oxford Biomedical Research Centre, National Institute for Health Research, Oxford OX3 7BN, UK., Santoro SL; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA., Huang T; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA., Hopkin RJ; Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, MLC 4006, 3333 Burnet Avenue, Cincinnati, OH 45229, USA., Brady AF; North West Thames Regional Genetics Service, Kennedy-Galton Centre, Northwick Park Hospital, Harrow HA1 3UJ, UK., Clayton-Smith J; Manchester Centre for Genomic Medicine, St. Mary's Hospital, University of Manchester, Manchester M13 9WL, UK., Clericuzio CL; Division of Genetics/Dysmorphology, Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Grange DK; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA., Groesser L; Department of Dermatology, University of Regensburg, 93053 Regensburg, Germany., Hafner C; Department of Dermatology, University of Regensburg, 93053 Regensburg, Germany., Horn D; Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany., Temple IK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton SO17 1BJ, UK; Wessex Clinical Genetics Service, Princess Anne Hospital, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK., Dobyns WB; Center for Integrative Brain Research, Seattle Children's Hospital, Seattle, WA 98105, USA., Curry CJ; Genetic Medicine, University of California, San Francisco, Fresno, CA 93701, USA., Jones MC; Department of Pediatrics, University of California, San Diego, and Rady Children's Hospital, San Diego, CA 92123, USA., Wilkie AOM; Clinical Genetics Group, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DS, UK. Electronic address: andrew.wilkie@imm.ox.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Jun 02; Vol. 98 (6), pp. 1256-1265. Date of Electronic Publication: 2016 May 26.

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Autor: McMillin MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Beck AE; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA., Chong JX; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Shively KM; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Buckingham KJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Gildersleeve HI; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Aracena MI; Genetic Unit, Hospital Dr. Luis Calvo Mackenna, Santiago 7500539, Chile; Division of Pediatrics, Pontificia Universidad Católica de Chile, Santiago 8330074, Chile., Aylsworth AS; Departments of Pediatrics and Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Bitoun P; Service de Pédiatrie, Hôpital Jean Verdier, Assistance Publique - Hôpitaux de Paris, Bondy 93143, France., Carey JC; Department of Pediatrics, University of Utah, Salt Lake City, UT 84108, USA., Clericuzio CL; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Crow YJ; Manchester Academic Health Science Centre and University of Manchester, Manchester M13 9NT, UK., Curry CJ; Genetic Medicine Central California, University of California, San Francisco, Fresno, CA 93701, USA., Devriendt K; Centre for Human Genetics, University Hospitals KU Leuven, 3000 Leuven, Belgium., Everman DB; Greenwood Genetic Center, Greenwood, SC 29646, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital, Liverpool L12 2AP, UK., Gibson K; Genetic Health Service New Zealand, Christchurch Hospital, Christchurch 8140, New Zealand., Giovannucci Uzielli ML; Genetics and Molecular Medicine, Dipartimento di Scieze della Salute, University of Florence, Florence 50132, Italy., Graham JM Jr; Division of Clinical Genetics and Dysmorphology, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Hall JG; Departments of Medical Genetics and Pediatrics, University of British Columbia and BC Children's Hospital, Vancouver, BC V6H 3N1, Canada., Hecht JT; Department of Pediatrics, University of Texas Medical School, Houston, TX 77030, USA., Heidenreich RA; Department of Pediatrics, University of New Mexico, Albuquerque, NM 87131, USA., Hurst JA; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Irani S; Nuffield Department of Clinical Neurosciences, John Radcliffe Hospital, University of Oxford, Oxford OX3 9DU, UK., Krapels IP; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Leroy JG; Princess Elisabeth Children's Hospital, Ghent University Hospital, 9000 Ghent, Belgium., Mowat D; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW 2031, Australia; School of Women's and Children's Health, UNSW Medicine, University of New South Wales, Sydney, NSW 2052, Australia., Plant GT; National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK., Robertson SP; Department of Women's and Children's Health, University of Otago, Dunedin 9054, New Zealand., Schorry EK; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA., Scott RH; North East Thames Regional Genetic Service, Great Ormond Street Hospital, London WC1N 3BH, UK., Seaver LH; Department of Pediatrics, University of Hawai'i John A. Burns School of Medicine, Honolulu, HI 96826, USA., Sherr E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94143, USA., Splitt M; Northern Genetics Service, Institute of Genetic Medicine, Newcastle upon Tyne NE1 3BZ, UK., Stewart H; Department of Clinical Genetics, Churchill Hospital, Oxford University Hospitals NHS Trust, Oxford OX3 7LJ, UK., Stumpel C; Department of Clinical Genetics, School for Oncology and Developmental Biology, Maastricht UMC+, Maastricht 6229 GR, the Netherlands., Temel SG; Department of Medical Genetics, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Uludag University, Bursa 16059, Turkey; Department of Histology & Embryology, Faculty of Medicine, Near East University, TRNC Mersin 10, Turkey., Weaver DD; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Whiteford M; Department of Clinical Genetics, Southern General Hospital, Glasgow G51 4TF, UK., Williams MS; Genomic Medicine Institute, Geisinger Health System, Danville, PA 17822, USA., Tabor HK; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Treuman Katz Center for Pediatric Bioethics, Seattle Children's Research Institute, Seattle, WA 98101, USA., Smith JD; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Shendure J; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Nickerson DA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Department of Pediatrics, University of Washington, Seattle, WA 98195, USA; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98105, USA; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: mbamshad@uw.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 May 01; Vol. 94 (5), pp. 734-44. Date of Electronic Publication: 2014 Apr 10.

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome.

Autor: McDonell LM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada., Mirzaa GM, Alcantara D, Schwartzentruber J, Carter MT, Lee LJ, Clericuzio CL, Graham JM Jr, Morris-Rosendahl DJ, Polster T, Acsadi G, Townshend S, Williams S, Halbert A, Isidor B, David A, Smyser CD, Paciorkowski AR, Willing M, Woulfe J, Das S, Beaulieu CL, Marcadier J, Geraghty MT, Frey BJ, Majewski J, Bulman DE, Dobyns WB, O'Driscoll M, Boycott KM

Publikováno v: Nature genetics [Nat Genet] 2013 May; Vol. 45 (5), pp. 556-62. Date of Electronic Publication: 2013 Mar 31.