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: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2021-07-01
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| coleção: | BMC Medical Genomics |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s12920-021-01042-6 |
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