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Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Alby, Caroline; Boutaud, Lucile; Bessières, Bettina; Serre, Valérie; Rio, Marlene; Cormier-Daire, Valerie; de Oliveira, Judith; Ichkou, Amale; Mouthon, Linda; Gordon, Christopher T; Bonnière, Maryse; Mechler, Charlotte; Nitschke, Patrick; Bole, Christine; Lyonnet, Stanislas; Bahi-Buisson, Nadia; Boddaert, Nathalie; Colleaux, Laurence; Roth, Philippe; Ville, Yves; Vekemans, Michel; Encha-Razavi, Féréchté; Attié-Bitach, Tania; Thomas, Sophie.
Afiliação
  • Alby C; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163 Institut Imagine, Paris, France.
  • Boutaud L; Paris Descartes Sorbonne Paris Cité, Paris, France.
  • Bessières B; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Serre V; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163 Institut Imagine, Paris, France.
  • Rio M; Paris Descartes Sorbonne Paris Cité, Paris, France.
  • Cormier-Daire V; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • de Oliveira J; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Ichkou A; UMR7592 CNRS Jacques Monod Institute Paris Diderot University, Paris, France.
  • Mouthon L; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Gordon CT; Paris Descartes Sorbonne Paris Cité, Paris, France.
  • Bonnière M; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Mechler C; Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, INSERM UMR1163 Institut Imagine, Paris, France.
  • Nitschke P; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163 Institut Imagine, Paris, France.
  • Bole C; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Lyonnet S; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Bahi-Buisson N; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Boddaert N; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR1163 Institut Imagine, Paris, France.
  • Colleaux L; Paris Descartes Sorbonne Paris Cité, Paris, France.
  • Roth P; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Ville Y; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Vekemans M; Department of genetics, Hospital Necker-Enfants Malades Assistance Publique Hôpitaux de Paris (AP-HP), Paris, France.
  • Encha-Razavi F; Paris Descartes Sorbonne Paris Cité, Paris, France.
  • Attié-Bitach T; Bioinformatics Core Facility Paris-Descartes Sorbonne Paris Cité University Institut Imagine, Paris, France.
  • Thomas S; Paris Descartes Sorbonne Paris Cité, Paris, France.
Am J Med Genet A ; 176(5): 1091-1098, 2018 05.
Article em En | MEDLINE | ID: mdl-29681083
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Calcinose / Atrofia Muscular / Otopatias / Agenesia do Corpo Caloso / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Anormalidades Múltiplas / Calcinose / Atrofia Muscular / Otopatias / Agenesia do Corpo Caloso / Deficiência Intelectual / Mutação / Proteínas do Tecido Nervoso Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2018 Tipo de documento: Article