title: A gene for hereditary multiple exostoses maps to chromosome 19p.
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.
authors.affiliation: Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-393, Hôpital des Enfants-Malades, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: L
authors.initials: L
authors.lastname: Legeai-Mallet
authors.forename: P M
authors.initials: PM
authors.lastname: Jeannin
authors.forename: B
authors.initials: B
authors.lastname: Horsthemke
authors.forename: A
authors.initials: A
authors.lastname: Schinzel
authors.forename: H
authors.initials: H
authors.lastname: Plauchu
authors.forename: A
authors.initials: A
authors.lastname: Toutain
authors.forename: F
authors.initials: F
authors.lastname: Achard
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
mesh_terms: D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D002898:Chromosomes, Human, Pair 8; D005097:Exostoses, Multiple Hereditary / Q000145:classification / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree