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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Principais autores:	Nozomu Ozaki, Hiroko Okuda, Hatasu Kobayashi, Kouji H. Harada, Sumiko Inoue, Shohab Youssefian, Akio Koizumi
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2021-07-01
Series:	BMC Medical Genomics
Assuntos:	Brachydactyly type A1 IHH gene Short stature
Acceso en liña:	https://doi.org/10.1186/s12920-021-01042-6
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