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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 |