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Article

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

Orthopaedic surgery - 1 Sept 2022

Li Qiuya, Bai Fan, Chen Shanlin

Abstract excerpt

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 BDC patient with significant shortening of the 1st, 2nd, 3rd, and 5th digits. Notably, according to the analysis of...

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Identifiers

PMID: 35819086
DOI: 10.1111/os.13383
PMCID: PMC9483038

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