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Identification of a GDF5 Mutation in a Korean Patient with Brachydactyly Type C without Foot Involvement

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 thi...

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Bibliografiske detaljer
Main Authors: Seo, Soo Hyun, Park, Mi Jung, Kim, Shin-Hye, Kim, Ok-Hwa, Park, Seungman, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Format: Artigo
Sprog:Inglês
Udgivet: The Korean Society for Laboratory Medicine 2013
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3589643/
https://ncbi.nlm.nih.gov/pubmed/23483675
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2013.33.2.150
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