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Microcephaly-capillary malformation syndrome: Brothers with a homozygous STAMBP mutation, uncovered by exome sequencing.
Naseer, Muhammad Imran; Sogaty, Sameera; Rasool, Mahmood; Chaudhary, Adeel G; Abutalib, Yousif Ahmed; Walker, Susan; Marshall, Christian R; Merico, Daniele; Carter, Melissa T; Scherer, Stephen W; Al-Qahtani, Mohammad H; Zarrei, Mehdi.
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  • Naseer MI; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Sogaty S; Department of Medical Genetics, King Fahad General Hospital, Jeddah, Saudi Arabia.
  • Rasool M; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Chaudhary AG; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Abutalib YA; Maternity and Children Hospital, Jeddah, Saudi Arabia.
  • Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Marshall CR; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Merico D; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Carter MT; Department of Genetics, The Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
  • Scherer SW; Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia. stephen.scherer@sickkids.ca.
  • Al-Qahtani MH; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.
  • Zarrei M; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario, Canada. stephen.scherer@sickkids.ca.
Am J Med Genet A ; 170(11): 3018-3022, 2016 11.
Article en En | MEDLINE | ID: mdl-27531570
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Capilares / Ubiquitina Tiolesterasa / Malformaciones Vasculares / Complejos de Clasificación Endosomal Requeridos para el Transporte / Homocigoto / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Capilares / Ubiquitina Tiolesterasa / Malformaciones Vasculares / Complejos de Clasificación Endosomal Requeridos para el Transporte / Homocigoto / Microcefalia Tipo de estudio: Prognostic_studies Límite: Humans / Male Idioma: En Año: 2016 Tipo del documento: Article