Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome.

作者信息

Szpiro-Tapia S, Sefiani A, Guilloud-Bataille M, Heuertz S, Le Marec B, Frézal J, Maroteaux P, Hors-Cayla M C

机构信息

Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants-Malades, Paris, France.

出版信息

Hum Genet. 1988 Dec;81(1):61-3. doi: 10.1007/BF00283731.

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.