title: Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.
abstract: A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 (theta = 0.08; z = 3.07) and DXS92 (theta = 0.05; z = 2.95) has been established. We propose that the SEDL locus lies on the distal part of the short arm of the X chromosome.
authors.affiliation: Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants-Malades, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Szpiro-Tapia
authors.forename: A
authors.initials: A
authors.lastname: Sefiani
authors.forename: M
authors.initials: M
authors.lastname: Guilloud-Bataille
authors.forename: S
authors.initials: S
authors.lastname: Heuertz
authors.forename: B
authors.initials: B
authors.lastname: Le Marec
authors.forename: J
authors.initials: J
authors.lastname: Frézal
authors.forename: P
authors.initials: P
authors.lastname: Maroteaux
authors.forename: M C
authors.initials: MC
authors.lastname: Hors-Cayla
mesh_terms: D002874:Chromosome Mapping; D015342:DNA Probes; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D014960:X Chromosome
chemical_list: D015342:DNA Probes; D005819:Genetic Markers