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EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder.
Lévy, J; Haye, D; Marziliano, N; Casu, G; Guimiot, F; Dupont, C; Teissier, N; Benzacken, B; Gressens, P; Pipiras, E; Verloes, A; Tabet, A-C.
Affiliation
  • Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Haye D; Sorbonne Paris-Cité University, Denis Diderot Medical School, Paris, France.
  • Marziliano N; INSERM UMR1141, Robert-Debré Hospital, Paris Diderot University, AP-HP, Paris, France.
  • Casu G; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Guimiot F; Unità Operatica Complessa di Cardiologia, ASSL3 Nuoro-ATS Sardegna, Italy.
  • Dupont C; Unità Operatica Complessa di Cardiologia, ASSL3 Nuoro-ATS Sardegna, Italy.
  • Teissier N; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Benzacken B; Department of Developmental Biology, AP-HP Robert-Debré University Hospital, Paris Diderot University, Sorbonne Paris-Cité University, Paris, France.
  • Gressens P; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Pipiras E; Sorbonne Paris-Cité University, Denis Diderot Medical School, Paris, France.
  • Verloes A; INSERM UMR1141, Robert-Debré Hospital, Paris Diderot University, AP-HP, Paris, France.
  • Tabet AC; INSERM UMR1141, Robert-Debré Hospital, Paris Diderot University, AP-HP, Paris, France.
Clin Genet ; 93(6): 1141-1147, 2018 06.
Article in En | MEDLINE | ID: mdl-29508392
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Full text: 1 Database: MEDLINE Main subject: Chromosome Disorders / Ephrin-B2 / Haploinsufficiency / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2018 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Chromosome Disorders / Ephrin-B2 / Haploinsufficiency / Neurodevelopmental Disorders Type of study: Etiology_studies / Prognostic_studies Limits: Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Year: 2018 Type: Article