Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1

Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1

Abstract Background Brachydactyly type A1 (BDA1) is an autosomal dominant disorder characterized by uniform shortening of the middle phalanges in all digits. It is associated with variants in the Indian Hedgehog (IHH) gene, which plays a key role in endochondral ossification. To date, heterozygous p...

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Bibliographic Details
Main Authors: Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian, Akio Koizumi
Format: Article
Language:English
Published: BMC 2021-07-01
Series:BMC Medical Genomics
Subjects:
Brachydactyly type A1
IHH gene
Short stature
Online Access:https://doi.org/10.1186/s12920-021-01042-6

Internet

https://doi.org/10.1186/s12920-021-01042-6

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