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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
DeSanto, Cori; D'Aco, Kristin; Araujo, Gabriel C; Shannon, Nora; Vernon, Hilary; Rahrig, April; Monaghan, Kristin G; Niu, Zhiyv; Vitazka, Patrik; Dodd, Jonathan; Tang, Sha; Manwaring, Linda; Martir-Negron, Arelis; Schnur, Rhonda E; Juusola, Jane; Schroeder, Audrey; Pan, Vivian; Helbig, Katherine L; Friedman, Bethany; Shinawi, Marwan.
Afiliação
  • DeSanto C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
  • D'Aco K; Division of Genetics, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
  • Araujo GC; Department of Psychology, St Louis Children's Hospital, St Louis, Missouri, USA.
  • Shannon N; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Vernon H; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA McKusick Nathans Institute of Genetic Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
  • Rahrig A; Department of Pediatrics, Advocate Children's Hospital, Park Ridge, Illinois, USA.
  • Monaghan KG; GeneDx, Gaithersburg, Maryland, USA.
  • Niu Z; Department of Molecular and Human Genetics, Whole Genome Laboratory and Medical Genetics Laboratories, Baylor College of Medicine, Houston, Texas, USA.
  • Vitazka P; GeneDx, Gaithersburg, Maryland, USA.
  • Dodd J; Department of Psychology, St Louis Children's Hospital, St Louis, Missouri, USA.
  • Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Manwaring L; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
  • Martir-Negron A; Department of Pediatrics, Advocate Children's Hospital, Park Ridge, Illinois, USA Division of Clinical Genetics & Metabolic Disorders, Palm Beach Gardens Outpatient Center, Nicklaus Children's Hospital, Miami, Florida, USA.
  • Schnur RE; GeneDx, Gaithersburg, Maryland, USA.
  • Juusola J; GeneDx, Gaithersburg, Maryland, USA.
  • Schroeder A; Division of Genetics, Department of Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York, USA.
  • Pan V; Department of Pediatrics, Advocate Children's Hospital, Park Ridge, Illinois, USA.
  • Helbig KL; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, California, USA.
  • Friedman B; GeneDx, Gaithersburg, Maryland, USA.
  • Shinawi M; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA.
J Med Genet ; 52(11): 754-61, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26264232
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiências do Desenvolvimento / Proteínas Adaptadoras de Transdução de Sinal / Hipotonia Muscular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Deficiências do Desenvolvimento / Proteínas Adaptadoras de Transdução de Sinal / Hipotonia Muscular / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn / Pregnancy Idioma: En Revista: J Med Genet Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Estados Unidos