Ontology highlight
ABSTRACT:
SUBMITTER: Seo SH
PROVIDER: S-EPMC3589643 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Seo Soo Hyun SH Park Mi Jung MJ Kim Shin-Hye SH Kim Ok-Hwa OH Park Seungman S Cho Sung Im SI Park Sung Sup SS Seong Moon-Woo MW
Annals of laboratory medicine 20130221 2
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 a 6-yr-old girl diagnosed with BDC confirmed by molecular genetic analysis. The pat ...[more]