Article
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12.
American journal of human genetics - 1 Oct 2002
Ehtesham Nadia, Cantor Rita M, King Lily M, Reinker Kent, Powell Berkley R, Shanske Alan, Unger Sheila, Rimoin David L, Cohn Daniel H
Abstract excerpt
Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest. We performed a genomewide scan in a consanguineous family from Guam and found evidence of linkage to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.