Article
A novel variant of IHH in a Chinese family with brachydactyly type 1.
BMC medical genetics - 24 Mar 2020
Yang Qi, Wang Jin, Tian Xiaoxian, Shen Fei, Lan Jing, Zhang Qiang, Fan Xin, Yi Shang, Li Mengting, Shen Yiping
Abstract excerpt
BACKGROUND: Brachydactyly type A1(BDA-1) is an autosomal dominant disorder which is caused by heterozygous pathogenic variants in a specific region of the N-terminal active fragment of Indian Hedgehog (IHH). The disorder is mainly characterized by shortening or missing of the middle phalanges. In this study, Our purpose is to identify the pathogenic variations associated with BDA-1 involved in a five-generation...
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