Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

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

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

Institution:	(1) Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants-Malades, 149, Rue de Sèvres, F-75743 Paris Cédex 15, France;(2) Unité de Recherches de Génétique Epidémiologique, INSERM U. 155, Château de Longchamp, Bois de Boulogne, F-75016 Paris, France;(3) Génetique Médicale, Hôpital de Pontchaillou, F-35011 Rennes Cédex, France

Abstract:	Summary A linkage study of six families with spondyloepiphyseal dysplasia tarda (SEDL) has been performed. A linkage to site DXS41 ( $\hat \theta$ =0.08; =3.07) and DXS92 ( $\hat \theta$ =0.05; =2.95) has been established. We propose, that the SEDL locus lies on the distal part of the short arm of the X chromosome.

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