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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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| Published in: | BMC Med Genomics |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
BioMed Central
2021
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| Subjects: | |
| 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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