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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Detalhes bibliográficos
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
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Society for Laboratory Medicine 2013
Assuntos:
Case Report
Acesso em linha: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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