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Article

Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.

Annals of laboratory medicine - 1 Mar 2013

Seo Soo Hyun, Park Mi Jung, Kim Shin-Hye, Kim Ok-Hwa, Park Seungman, Cho Sung Im, Park Sung Sup, Seong Moon-Woo

Abstract excerpt

Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little fingers. Hyperphalangy of the index and middle finger and shortening of the first metacarpal can also be observed. BDC is a rare genetic condition associated with the GDF5 gene, and this condition has not been confirmed by genetic analysis so far in the Korean population. Herein, we present a case of...

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Identifiers

PMID: 23483675
DOI: 10.3343/alm.2013.33.2.150
PMCID: PMC3589643

Genes

GDF5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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