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

• Main Authors: Qi Yang (Author), Jin Wang (Author), Xiaoxian Tian (Author), Fei Shen (Author), Jing Lan (Author), Qiang Zhang (Author), Xin Fan (Author), Shang Yi (Author), Mengting Li (Author), Yiping Shen (Author)
• Format: Book
• Published: BMC, 2020-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract 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 phalange...