A novel variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation
Rapid Communications
A novel variant of TFAP2A in a familial case of branchio-oculo-facial syndrome: Insights from structural bioinformatics and molecular dynamics simulation
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Branchio-oculo-facial syndrome (BOFS; OMIM 113620) is an autosomal dominant condition characterized by three main features, respectively: branchial defects, ocular anomalies, and craniofacial defects. BOFS is a distinctive multiple congenital anomaly syndrome with variable severity.1
