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Article

High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12.

Genomics - 10 Aug 1995

Knowlton R G, Cekleniak J A, Cohn D H, Briggs M D, Hoffman S M, Brandriff B F, Olsen A S

Abstract excerpt

Multiple epiphyseal dysplasia (MED) and pseudoachondroplasia (PSACH) are autosomal dominant chondrodysplasias that have similar phenotypes at both clinical and cytological levels. With the recent mapping of PSACH and one form of MED (EDM1) to the pericentromeric region of chromosome 19, it is likely that the disease mutations are allelic. D19S212 and D19S215, genetic markers flanking the EDM1/PSACH locus, have...

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PMID: 7490089
DOI: 10.1006/geno.1995.1183

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