Oral‐facial‐digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum

Oral‐facial‐digital syndrome type 1 (OFD1; OMIM# 311200) is an X‐linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is pre...

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Detalles Bibliográficos
Autores principales: Bouman, Arjan, Alders, Mariëlle, Oostra, Roelof Jan, van Leeuwen, Elisabeth, Thuijs, Nikki, van der Kevie‐Kersemaekers, Anne‐Marie, van Maarle, Merel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413846/
https://www.ncbi.nlm.nih.gov/pubmed/28371265
http://dx.doi.org/10.1002/ajmg.a.38179

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