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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
Maillard, Camille; Cavallin, Mara; Piquand, Kevin; Philbert, Marion; Bault, Jean Philippe; Millischer, Anne Elodie; Moshous, Despina; Rio, Marlène; Gitiaux, Cyril; Boddaert, Nathalie; Masson, Cecile; Thomas, Sophie; Bahi-Buisson, Nadia.
Afiliação
  • Maillard C; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Cavallin M; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Piquand K; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Philbert M; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Bault JP; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Millischer AE; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Moshous D; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Rio M; INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
  • Gitiaux C; CHU Bicêtre Departments of Obstetrics, Bicetre University Hospital, APHP, Paris, France.
  • Boddaert N; CPDP, CHI Poissy Saint-Germain, Paris, France.
  • Masson C; Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.
  • Thomas S; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
  • Bahi-Buisson N; INSERM UMR1163, Genome Dynamics in the Immune System, Paris, France.
Am J Med Genet A ; 173(3): 706-711, 2017 Mar.
Article em En | MEDLINE | ID: mdl-28168853
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas / Agenesia do Corpo Caloso / Polimicrogiria / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas / Agenesia do Corpo Caloso / Polimicrogiria / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França