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...

Ausführliche Beschreibung

Bibliographische Detailangaben
Hauptverfasser: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li, Yiping Shen
Format: Artikel
Sprache:English
Veröffentlicht: BMC 2020-03-01
Schriftenreihe:BMC Medical Genetics
Schlagworte:
Brachydactyly type A1
IHH gene
Variant
Online Zugang:http://link.springer.com/article/10.1186/s12881-020-01000-6

Online

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

Ähnliche Einträge