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Frameshift Mutation in a Chinese Patient with Brachydactyly Type C Involving the Third Metacarpal: A Case Report

Brachydactyly is a common feature of congenital hand anomalies characterized by shortening of the phalanges and/or metacarpals. Mutation of growth differentiation factor‐5 (GDF5) may result in loss of appearance and function in brachydactyly type C (BDC). Herein, we describe an 11 year‐old Chinese B...

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Detalles Bibliográficos
Autores principales: Li, Qiuya, Bai, Fan, Chen, Shanlin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons Australia, Ltd 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9483038/
https://www.ncbi.nlm.nih.gov/pubmed/35819086
http://dx.doi.org/10.1111/os.13383