Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome

Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene (TFAP2A). We performed detailed genetic analysis of a Japanese family with clinically sus...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Hum Genome Var
Prif Awduron: Sato, Taisuke, Samura, Osamu, Kato, Noriko, Taniguchi, Kosuke, Takahashi, Ken, Ito, Yuki, Aoki, Hiroaki, Kobayashi, Masahisa, Migita, Ohsuke, Okamoto, Aikou, Hata, Kenichiro
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2018
Pynciau:
Data Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5945586/
https://ncbi.nlm.nih.gov/pubmed/29760939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0004-z
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