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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-28168853
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Proteins / Agenesis of Corpus Callosum / Polymicrogyria / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phenotype / Proteins / Agenesis of Corpus Callosum / Polymicrogyria / Mutation Type of study: Diagnostic_studies / Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: France