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Mutations in IFT80 cause SRPS Type IV. Report of two families and review.
Bizaoui, Varoona; Huber, Céline; Kohaut, Eva; Roume, Joelle; Bonnière, Maryse; Attié-Bitach, Tania; Cormier-Daire, Valérie.
  • Bizaoui V; Reference Center for Skeletal Dysplasia, AP-HP, Necker-Enfants Malades Hospital, Paris, France.
  • Huber C; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
  • Kohaut E; INSERM UMR1163, IMAGINE Institute, Paris, France.
  • Roume J; Unité d'Embryofoetopathologie, Service d'histologie-embryologie-cytogénétique, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
  • Bonnière M; Department of Genetics, Reference Center for Rare Developmental Diseases (AnD DI Rares), CHI Poissy, Poissy, France.
  • Attié-Bitach T; Unité d'Embryofoetopathologie, Service d'histologie-embryologie-cytogénétique, AP-HP, Hôpital Necker-Enfants Malades, Paris, France.
  • Cormier-Daire V; Département de Génétique, Université Paris Descartes-Sorbonne Paris Cité, Paris, France.
Am J Med Genet A ; 179(4): 639-644, 2019 04.
Article en En | MEDLINE | ID: mdl-30767363
We report novel causative mutations in the IFT80 gene identified in four fetuses from two unrelated families with Beemer-Langer syndrome (BLS) or BLS-like phenotypes. We discuss the implication of the IFT80 gene in ciliopathies, and its diagnostic value for BLS among other SRPS.
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Costilla Pequeña y Polidactilia / Proteínas Portadoras / Feto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Síndrome de Costilla Pequeña y Polidactilia / Proteínas Portadoras / Feto / Mutación Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Año: 2019 Tipo del documento: Article