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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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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genomics
Prif Awduron: Ozaki, Nozomu, Okuda, Hiroko, Kobayashi, Hatasu, Harada, Kouji H., Inoue, Sumiko, Youssefian, Shohab, Koizumi, Akio
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2021
Pynciau:
Mynediad Ar-lein: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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