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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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作者 Jingjing Zhao Nuo Si +1 位作者 Ningbei Yin Tao Song 《Genes & Diseases》 2025年第6期70-72,共3页
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 mu... 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. 展开更多
关键词 TFAP Molecular Dynamics Simulation craniofacial defectsbofs Structural Bioinformatics multiple congenital anomaly syndrome autosomal dominant condition Branchio Oculo Facial Syndrome
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