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

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 pathogeni...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Ozaki, Nozomu, Okuda, Hiroko, Kobayashi, Hatasu, Harada, Kouji H., Inoue, Sumiko, Youssefian, Shohab, Koizumi, Akio
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2021
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8314500/
https://ncbi.nlm.nih.gov/pubmed/34315464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01042-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados