A novel variant of IHH in a Chinese family with brachydactyly type 1

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 ...

Source: BMC Medical Genetics - March 24, 2020 Category: Genetics & Stem Cells Authors: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li and Yiping Shen Tags: Research article Source Type: research