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MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
Gordon, Christopher T; Chopra, Maya; Oufadem, Myriam; Alibeu, Olivier; Bras, Marc; Boddaert, Nathalie; Bole-Feysot, Christine; Nitschké, Patrick; Abadie, Véronique; Lyonnet, Stanislas; Amiel, Jeanne.
Afiliação
  • Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Chopra M; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Oufadem M; Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Alibeu O; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Bras M; Laboratory of Embryology and Genetics of Congenital Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1163, Institut Imagine, Paris, France.
  • Boddaert N; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Bole-Feysot C; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Nitschké P; Genomics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Abadie V; Paris Descartes-Sorbonne Paris Cité Université, Institut Imagine, Paris, France.
  • Lyonnet S; Bioinformatics Platform, INSERM UMR 1163, Institut Imagine, Paris, France.
  • Amiel J; Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.
Am J Med Genet A ; 176(1): 181-186, 2018 01.
Article em En | MEDLINE | ID: mdl-29159987
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Complexo Mediador / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Pierre Robin / Complexo Mediador / Mutação com Perda de Função Tipo de estudo: Prognostic_studies Limite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article