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Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children.
Yu, Kris P T; Luk, Ho-Ming; Gordon, Christopher T; Fung, Genevieve; Oufadem, Myriam; Garcia-Barcelo, Maria M; Amiel, Jeanne; Chung, Brian H Y; Lo, Ivan F M; Tiong, Yang Tan.
Afiliação
  • Yu KPT; Clinical Genetic Service, Department of Health.
  • Luk HM; Clinical Genetic Service, Department of Health.
  • Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163.
  • Fung G; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine.
  • Oufadem M; Department of Paediatrics and Adolescent Medicine.
  • Garcia-Barcelo MM; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163.
  • Amiel J; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine.
  • Chung BHY; Department of Surgery.
  • Lo IFM; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163.
  • Tiong YT; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine.
Clin Dysmorphol ; 27(2): 31-35, 2018 Apr.
Article em En | MEDLINE | ID: mdl-29381487
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Fatores de Alongamento de Peptídeos / Ribonucleoproteína Nuclear Pequena U5 / Disostose Mandibulofacial Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Deficiências do Desenvolvimento / Fatores de Alongamento de Peptídeos / Ribonucleoproteína Nuclear Pequena U5 / Disostose Mandibulofacial Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article