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A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
BACKGROUND: Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A–E. However, the exact cause and mechanism of BD remain to be illuminated. Here, we aim to reveal the clinical and genetic...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507485/ https://www.ncbi.nlm.nih.gov/pubmed/32583964 http://dx.doi.org/10.1002/mgg3.1392 |