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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Bibliographic Details
Published in:BMC Med Genomics
Main Authors: Ozaki, Nozomu, Okuda, Hiroko, Kobayashi, Hatasu, Harada, Kouji H., Inoue, Sumiko, Youssefian, Shohab, Koizumi, Akio
Format: Artigo
Language:Inglês
Published: BioMed Central 2021
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Research Article
Online Access: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
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