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The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function.
Gordon, C T; Tessier, A; Demir, Z; Goldenberg, A; Oufadem, M; Voisin, N; Pingault, V; Bienvenu, T; Lyonnet, S; de Pontual, L; Amiel, J.
Affiliation
  • 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.
  • Tessier A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Demir Z; 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.
  • Goldenberg A; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Oufadem M; Département de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Voisin N; Service de Génétique, CHU de Rouen, Centre Normand de Génomique Médicale et Médecine Personnalisée, Rouen, France.
  • Pingault V; 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.
  • Bienvenu T; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Lyonnet S; 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.
  • de Pontual L; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, Paris, France.
  • Amiel J; 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.
Clin Genet ; 93(2): 356-359, 2018 02.
Article in En | MEDLINE | ID: mdl-28456137
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Genetic Predisposition to Disease / Ear / Ear Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article Affiliation country: France Country of publication: Denmark
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Brain Diseases / Genetic Predisposition to Disease / Ear / Ear Diseases Type of study: Prognostic_studies / Risk_factors_studies Limits: Child, preschool / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2018 Document type: Article Affiliation country: France Country of publication: Denmark