Article
Exclusion of BMP6 as a candidate gene for cleidocranial dysplasia.
American journal of medical genetics - 22 Aug 1997
Innis J W, Asher J H, Liang Y, Wang A, Wilke C M, Dierick H A, Kazen-Gillespie K, Sheldon S, Glover T W, Friedman T B
Abstract excerpt
Cleidocranial dysplasia (CCD) is an autosomal dominant, generalized skeletal dysplasia in humans that has been mapped to the short arm of chromosome 6. We report linkage of a CCD mutation to 6p21 in a large family and exclude the bone morphogenetic protein 6 gene (BMP6) as a candidate for the disease by cytogenetic localization and genetic recombination. CCD was linked with a maximal two-point LOD score of 7.22...
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