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Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
McMillin, Margaret J; Beck, Anita E; Chong, Jessica X; Shively, Kathryn M; Buckingham, Kati J; Gildersleeve, Heidi I S; Aracena, Mariana I; Aylsworth, Arthur S; Bitoun, Pierre; Carey, John C; Clericuzio, Carol L; Crow, Yanick J; Curry, Cynthia J; Devriendt, Koenraad; Everman, David B; Fryer, Alan; Gibson, Kate; Giovannucci Uzielli, Maria Luisa; Graham, John M; Hall, Judith G; Hecht, Jacqueline T; Heidenreich, Randall A; Hurst, Jane A; Irani, Sarosh; Krapels, Ingrid P C; Leroy, Jules G; Mowat, David; Plant, Gordon T; Robertson, Stephen P; Schorry, Elizabeth K; Scott, Richard H; Seaver, Laurie H; Sherr, Elliott; Splitt, Miranda; Stewart, Helen; Stumpel, Constance; Temel, Sehime G; Weaver, David D; Whiteford, Margo; Williams, Marc S; Tabor, Holly K; Smith, Joshua D; Shendure, Jay; Nickerson, Deborah A; Bamshad, Michael J.
Afiliación
  • 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; 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, Tur
  • 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.
Am J Hum Genet ; 94(5): 734-44, 2014 May 01.
Article en En | MEDLINE | ID: mdl-24726473
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedades de la Retina / Anomalías Múltiples / Deformidades Congénitas de la Mano / Pie Equinovaro / Oftalmoplejía / Fisura del Paladar / Blefarofimosis / Enfermedades del Tejido Conjuntivo / Contractura Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Artrogriposis / Enfermedades de la Retina / Anomalías Múltiples / Deformidades Congénitas de la Mano / Pie Equinovaro / Oftalmoplejía / Fisura del Paladar / Blefarofimosis / Enfermedades del Tejido Conjuntivo / Contractura Tipo de estudio: Prognostic_studies Límite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Am J Hum Genet Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos