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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Detalles Bibliográficos
Autores principales: Seo, Soo Hyun, Park, Mi Jung, Kim, Shin-Hye, Kim, Ok-Hwa, Park, Seungman, Cho, Sung Im, Park, Sung Sup, Seong, Moon-Woo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Society for Laboratory Medicine 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589643/
https://www.ncbi.nlm.nih.gov/pubmed/23483675
http://dx.doi.org/10.3343/alm.2013.33.2.150

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3589643/
https://www.ncbi.nlm.nih.gov/pubmed/23483675
http://dx.doi.org/10.3343/alm.2013.33.2.150

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