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Xq25 duplication: the crucial role of the STAG2 gene in this novel human cohesinopathy.
Leroy, C; Jacquemont, M-L; Doray, B; Lamblin, D; Cormier-Daire, V; Philippe, A; Nusbaum, S; Patrat, C; Steffann, J; Colleaux, L; Vekemans, M; Romana, S; Turleau, C; Malan, V.
Afiliação
  • Leroy C; Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Jacquemont ML; Service de Néonatologie, Centre Hospitalier Universitaire de la Réunion, Saint-Pierre, France.
  • Doray B; Service de Génétique, Centre Hospitalier Universitaire de La Réunion, Hôpital Félix Guyon, Saint-Denis, France.
  • Lamblin D; Fondation Père Favron, CAMSP, Saint-Louis, France.
  • Cormier-Daire V; Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Philippe A; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
  • Nusbaum S; Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Patrat C; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
  • Steffann J; Institut IMAGINE, INSERM UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.
  • Colleaux L; Service de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Vekemans M; Laboratoire de Biologie De la Reproduction, Groupe Hospitalier Bichat-Claude Bernard, Paris, France.
  • Romana S; Service de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
  • Turleau C; Sorbonne Paris Cité, Université Paris Descartes, Paris, France.
  • Malan V; Institut IMAGINE, INSERM UMR_S1163, Hôpital Necker-Enfants Malades, Paris, France.
Clin Genet ; 89(1): 68-73, 2016 Jan.
Article em En | MEDLINE | ID: mdl-25677961

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Trissomia / Antígenos Nucleares Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Trissomia / Antígenos Nucleares Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Clin Genet Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França