Exome sequencing identifies a mutation in OFD1 in a male with Joubert syndrome, orofaciodigital spectrum anomalies and complex polydactyly

Orofaciodigital syndrome type 1 or oral–facial–digital syndrome type 1 (OFDS1, OMIM #311200) is an X-linked malformation syndrome caused by hemizygous mutations in the OFD1 (OMIM #300170) gene with presumed male lethality. Recently males with OFDS1 and mutations in OFD1 have been described. We repor...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Wentzensen, Ingrid M, Johnston, Jennifer J, Patton, John H, Graham, John M, Sapp, Julie C, Biesecker, Leslie G
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4760119/
https://ncbi.nlm.nih.gov/pubmed/27081566
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.69
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