A gene for hereditary multiple exostoses maps to chromosome 19p
- 1 May 1994
- journal article
- research article
- Published by Oxford University Press (OUP) in Human Molecular Genetics
- Vol. 3 (5) , 717-722
- https://doi.org/10.1093/hmg/3.5.717
Abstract
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped juxta-epiphyseal prominences on the long bones. Recently, a disease gene (EXT 1) has been mapped to chromosome 8q23-q24 by linkage analysis in informative families. Here, we report on the genetic mapping of a second locus (EXT 2) to the short arm of chromosome 19 by linkage to a microsatellite DNA marker at the D19S221 locus, which gives addltonal support to the view that EXT is a genetically heterogeneous condition.Keywords
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