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- W2085973945 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 theta = 0.00 were found for D19S212, D19S215, and D19S49, respectively. Multipoint analysis suggests the following order: D19S253-D19S199-(D19S212/PSACH/D19S215)-++ +D19S222-D19S49." @default.
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- W2085973945 date "1993-12-01" @default.
- W2085973945 modified "2023-09-26" @default.
- W2085973945 title "Linkage of typical pseudoachondroplasia to chromosome 19" @default.
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- W2085973945 doi "https://doi.org/10.1016/s0888-7543(05)80370-2" @default.
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