| Literature DB >> 8081357 |
M Le Merrer1, L Legeai-Mallet, P M Jeannin, B Horsthemke, A Schinzel, H Plauchu, A Toutain, F Achard, A Munnich, P Maroteaux.
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 additional support to the view that EXT is a genetically heterogeneous condition.Entities:
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Year: 1994 PMID: 8081357 DOI: 10.1093/hmg/3.5.717
Source DB: PubMed Journal: Hum Mol Genet ISSN: 0964-6906 Impact factor: 6.150