Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.

@article{Schwabe2004BrachydactylyTC,
  title={Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1.},
  author={Georg C. Schwabe and Seval Tuerkmen and Gundula Leschik and Sukru Palanduz and Brigitte Stoever and Timm O. Goecke and Stefan Mundlos},
  journal={American journal of medical genetics. Part A},
  year={2004},
  volume={124A 4},
  pages={356-63}
}
Brachydactyly type C (BDC) is characterized by shortening of the middle phalanges of the index, middle, and little finger with hyperphalangy, usually of the index and middle finger. Heterozygous mutations of the cartilage derived morphogenetic protein-1 (CDMP1) resulting in a loss of function have been reported in BDC. We here describe a large kindred with a semi-dominant form of BDC and pronounced ulnar deviation of the second and third digits. In this family a novel homozygous missense… CONTINUE READING

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