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Spondyloepiphyseal dysplasia tarda: linkage with genetic markers from the distal short arm of the X chromosome. 1988
S Szpiro-Tapia, and
A Sefiani, and
M Guilloud-Bataille, and
S Heuertz, and
B Le Marec, and
J Frézal, and
P Maroteaux, and
M C Hors-Cayla
Unité de Recherches de Génétique Médicale, INSERM U. 12, Hôpital des Enfants-Malades, Paris, France.
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.
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