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

doi:10.1016/s0888-7543(05)80369-6

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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...

Topics

Achondroplasia
Alleles
Chromosome Mapping
Chromosomes, Human, Pair 19
Female
Genetic Linkage
Genetic Markers
Genotype
Humans
Lod Score
Male
Pedigree
Recombination, Genetic

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