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• W2020451454 abstract "Pseudoachondroplasia (PSACH) is a dominantly inherited form of short-limb dwarfism characterized by dysplastic changes in the spine, epiphyses, and metaphyses and early onset osteoarthropathy. Chondrocytes from affected individuals accumulate an unusual appearing material in the rough endoplasmic reticulum, which has led to the hypothesis that a structural abnormality in a cartilage-specific protein produces the phenotype. We recently identified a large family with a mild form of pseudoachondroplasia. By genetic linkage to a dinucleotide repeat polymorphic marker (D19S199), we have localized the disease gene to chromosome 19 (maximum lod score of 7.09 at a recombination fraction of 0.03). Analysis of additional markers and recombinants between the linked markers and the phenotype suggests that the disease gene resides within a 6.3-cM interval in the immediate pericentromeric region of the chromosome." @default.
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• W2020451454 date "1993-12-01" @default.
• W2020451454 modified "2023-10-16" @default.
• W2020451454 title "Genetic linkage of mild pseudoachondroplasia (PSACH) to markersin the pericentromeric region of chromosome 19" @default.
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• W2020451454 doi "https://doi.org/10.1016/s0888-7543(05)80369-6" @default.
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