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Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.
Dontaine, Pauline; Kottos, Elisa; Dassonville, Martine; Balasel, Ovidiu; Catros, Véronique; Soblet, Julie; Perlot, Pascale; Vilain, Catheline.
Afiliação
  • Dontaine P; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.
  • Kottos E; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium.
  • Dassonville M; Department of Pediatric Surgery, Hôpital Universitaire des Enfants Reine Fabiola, Universite Libre de Bruxelles, Brussels, Belgium.
  • Balasel O; Department of Neonatalogy, Hôpital Universitaire des Enfants Reine Fabiola, Universite Libre de Bruxelles, Brussels, Belgium.
  • Catros V; Univ Rennes, Inserm, CHU Rennes, Institut NUMECAN (Nutrition Metabolisms and Cancer), CRB Santé Rennes, F-35000, Rennes, France.
  • Soblet J; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium; Interuniversity Institute o
  • Perlot P; Department of Pediatrics, Hôpital Universitaire des Enfants Reine Fabiola, Universite Libre de Bruxelles, Brussels, Belgium.
  • Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium; Department of Genetics, Hôpital Erasme, ULB Center of Human Genetics, Universite Libre de Bruxelles, Brussels, Belgium; Interuniversity Institute o
Eur J Med Genet ; 64(1): 104097, 2021 Jan.
Article em En | MEDLINE | ID: mdl-33186760
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deficiência Intelectual Ligada ao Cromossomo X Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2021 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Deficiência Intelectual Ligada ao Cromossomo X Limite: Child, preschool / Humans / Infant / Male Idioma: En Revista: Eur J Med Genet Ano de publicação: 2021 Tipo de documento: Article