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

Volume: 5, Pages: 5 - 5
Published: Jan 1, 2018
Abstract
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 suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding...
Paper Details
Title
Novel TFAP2A mutation in a Japanese family with Branchio-oculo-facial syndrome.
Published Date
Jan 1, 2018
Volume
5
Pages
5 - 5
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