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Fibrocystic Disease of Liver and Pancreas; Under-recognized features of the X-linked Ciliopathy Oral-Facial-Digital Syndrome Type 1 (OFD1)

OFD I is an X-linked dominant male-lethal ciliopathy characterized by prominent external features including oral clefts, hamartomas or cysts of the tongue, and digital anomalies. Although these external features are easy to recognize and often lead to diagnosis in early childhood, visceral findings...

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Detalhes bibliográficos
Main Authors: Chetty-John, Shilpa, Piwnica-Worms, Katie, Bryant, Joy, Bernardini, Isa, Fischer, Roxanne E, Heller, Theo, Gahl, William A, Gunay-Aygun, Meral
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2963649/
https://ncbi.nlm.nih.gov/pubmed/20818665
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33666
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