Article
Broad phenotypic spectrum caused by an identical heterozygous CDMP-1 mutation in three unrelated families.
American journal of medical genetics. Part A - 1 Mar 2003
Savarirayan Ravi, White Susan M, Goodman Frances R, Graham John M, Delatycki Martin B, Lachman Ralph S, Rimoin David L, Everman David B, Warman Matthew L
Abstract excerpt
CDMP-1, a cartilage-specific member of the TGFss superfamily of secreted signaling molecules, plays a key role in chondrogenesis, growth and patterning of the developing vertebrate skeleton. Homozygous CDMP-1 mutations cause Hunter-Thompson and Grebe types of acromesomelic chondrodysplasia and DuPan syndrome in humans, as well as brachypodism in mice, while heterozygous mutations cause brachydactyly type C (BDC)....
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