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...

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Detalles Bibliográficos
Autores principales: Ozaki, Nozomu, Okuda, Hiroko, Kobayashi, Hatasu, Harada, Kouji H., Inoue, Sumiko, Youssefian, Shohab, Koizumi, Akio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8314500/
https://www.ncbi.nlm.nih.gov/pubmed/34315464
http://dx.doi.org/10.1186/s12920-021-01042-6

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