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Linkage of typical pseudoachondroplasia to chromosome 19
Authors:Jacqueline T Hecht  Clair A Francomano  Michael D Briggs  Michelle Deere  Barbara Conner  William A Horton  Matthew Warman  Daniel H Cohn  Susan Halloran Blanton
Abstract:Pseudoachondroplasia (PSACH) is an autosomal dominant dwarfing condition associated with disproportionate short stature, marked joint deformities, and early onset osteoarthritis. Previous linkage studies have excluded linkage to cartilage and noncartilagenous extracellular matrix candidate genes. Here, we report mapping the pseudoachondroplasia gene to chromosome 19. Maximum lod scores of 4.70, 4.15, and 4.86 at θ - 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/Dl9S215)-D19S222-D19S49.
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