Article
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.
American journal of human genetics - 1 Jun 2001
Reichenberger E, Tiziani V, Watanabe S, Park L, Ueki Y, Santanna C, Baur S T, Shiang R, Grange D K, Beighton P, Gardner J, Hamersma H, Sellars S, Ramesar R, Lidral A C, Sommer A, Raposo do Amaral C M, Gorlin R J, Mulliken J B, Olsen B R
Abstract excerpt
Craniometaphyseal dysplasia (CMD) is a rare skeletal disorder characterized by progressive thickening and increased mineral density of craniofacial bones and abnormally developed metaphyses in long bones. Linkage studies mapped the locus for the autosomal dominant form of CMD to an approximately 5-cM interval on chromosome 5p, which is defined by recombinations between loci D5S810 and D5S1954. Mutational analysis...
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