Article
A novel duplication downstream of BMP2 in a Chinese family with Brachydactyly type A2 (BDA2).
Gene - 5 Feb 2018
Wang Wen-Bo, Jia Ya-Chao, Zhang Zeng, Xu Jia, Zuo Rong-Tai, Kang Qing-Lin
Abstract excerpt
BACKGROUND: Brachydactyly type A2 (BDA2) is an autosomal dominant disease characterized by the deformation of the middle phalanx of the second fingers and toes. It has been reported to be associated with three genes regulating the osteogenesis, including BMPR1B, GDF5 and BMP2. MATERIALS AND METHODS: 10 BDA2 patients and 7 unaffected individuals in a Chinese family were identified through clinical signs and...
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