Article
Frameshift mutation in the cartilage-derived morphogenetic protein 1 (CDMP1) gene and severe acromesomelic chondrodysplasia resembling Grebe-type chondrodysplasia.
American journal of medical genetics - 22 Jul 2002
Faiyaz-Ul-Haque Muhammad, Ahmad Wasim, Wahab Abdul, Haque Sayedul, Azim Anser C, Zaidi Syed H E, Teebi Ahmad S, Ahmad Mahmud, Cohn Daniel H, Siddique Teepu, Tsui Lap-Chee
Abstract excerpt
Grebe-type chondrodysplasia exhibits a severe form of limb shortening and appendicular bone dysmorphogenesis. Here we report a family with seven males and six females who inherited the disorder in an autosomal recessive fashion. While the carrier parents did not exhibit any apparent skeletal abnormalities, all affected patients had a similar phenotype with unaffected axial and craniofacial bones. Since mutations...
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