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

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

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...

Deskribapen osoa

Xehetasun bibliografikoak
Egile Nagusiak: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li, Yiping Shen
Formatua: Artikulua
Hizkuntza:English
Argitaratua: BMC 2020-03-01
Saila:BMC Medical Genetics
Gaiak:
Brachydactyly type A1
IHH gene
Variant
Sarrera elektronikoa:http://link.springer.com/article/10.1186/s12881-020-01000-6

Internet

http://link.springer.com/article/10.1186/s12881-020-01000-6

Antzeko izenburuak