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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families.
Fabre, Alexandre; Petit, Laetitia-Marie; Hansen, Lars F; Wewer, Anne V; Esteve, Clothilde; Chaix, Charlène; Bourgeois, Patrice; Badens, Catherine; Paerregaard, Anders.
Afiliação
  • Fabre A; Service de Pédiatrie Multidisciplinaire, Hopital de la Timone, APHM, Marseille, France.
  • Petit LM; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Hansen LF; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Wewer AV; Unité de gastro-entérologie, Hépatologie et Nutrition Pédiatriques, Departement de l'enfant et de l'Adolescent, Hopitaux Universitaires de Geneve, Geneve, Switzerland.
  • Esteve C; Department of Paediatrics, Hvidovre University Hospital, Copenhagen, Denmark.
  • Chaix C; Department of Paediatrics, Hvidovre University Hospital, Copenhagen, Denmark.
  • Bourgeois P; Aix Marseille Univ, INSERM, MMG, Marseille, France.
  • Badens C; Service de biologie moléculaire, Hopital de la Timone Enfant, APHM, Marseille, France.
  • Paerregaard A; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Am J Med Genet A ; 176(3): 727-732, 2018 Mar.
Article em En | MEDLINE | ID: mdl-29383842
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte / Diarreia / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Proteínas de Transporte / Diarreia / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article