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Matching two independent cohorts validates DPH1 as a gene responsible for autosomal recessive intellectual disability with short stature, craniofacial, and ectodermal anomalies.
Loucks, Catrina M; Parboosingh, Jillian S; Shaheen, Ranad; Bernier, Francois P; McLeod, D Ross; Seidahmed, Mohammed Z; Puffenberger, Erik G; Ober, Carole; Hegele, Robert A; Boycott, Kym M; Alkuraya, Fowzan S; Innes, A Micheil.
Afiliação
  • Loucks CM; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Parboosingh JS; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Shaheen R; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.
  • Bernier FP; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyhadh, 11211, Saudi Arabia.
  • McLeod DR; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Seidahmed MZ; Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.
  • Puffenberger EG; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Ober C; Department of Pediatrics, Security Forces Hospital, Riyadh, 12625, Saudi Arabia.
  • Hegele RA; Clinic for Special Children, Strasburg, Pennsylvania.
  • Boycott KM; Department of Human Genetics, and Department of Obstetrics and Gynecology, The University of Chicago, Chicago, Illinois.
  • Alkuraya FS; Department of Paediatrics, University of Western Ontario, London, Ontario, Canada.
  • Innes AM; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
Hum Mutat ; 36(10): 1015-9, 2015 Oct.
Article em En | MEDLINE | ID: mdl-26220823
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Mutação de Sentido Incorreto / Craniossinostoses / Proteínas Supressoras de Tumor / Nanismo / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osso e Ossos / Displasia Ectodérmica / Mutação de Sentido Incorreto / Craniossinostoses / Proteínas Supressoras de Tumor / Nanismo / Deficiência Intelectual Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2015 Tipo de documento: Article