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...

Szczegółowa specyfikacja

Opis bibliograficzny
Główni autorzy: Qi Yang, Jin Wang, Xiaoxian Tian, Fei Shen, Jing Lan, Qiang Zhang, Xin Fan, Shang Yi, Mengting Li, Yiping Shen
Format: Artykuł
Język:English
Wydane: BMC 2020-03-01
Seria:BMC Medical Genetics
Hasła przedmiotowe:
Brachydactyly type A1
IHH gene
Variant
Dostęp online:http://link.springer.com/article/10.1186/s12881-020-01000-6

Internet

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

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