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Article

Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19.

Genomics - 1 Dec 1993

Briggs M D, Rasmussen I M, Weber J L, Yuen J, Reinker K, Garber A P, Rimoin D L, Cohn D H

Abstract excerpt

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...

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PMID: 8307576
DOI: 10.1016/s0888-7543(05)80369-6

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