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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...

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Detalles Bibliográficos
Autores principales: Liu, Mohan, Zhang, Xueguang, Liu, Hongqian, Shen, Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
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