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  • Title: Genetic mapping of Xp22.12-p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL).
    Author: Heuertz S, Smahi A, Wilkie AO, Le Merrer M, Maroteaux P, Hors-Cayla MC.
    Journal: Hum Genet; 1995 Oct; 96(4):407-10. PubMed ID: 7557961.
    Abstract:
    Spondyloepiphyseal dysplasia tarda (SEDL) is an X-linked recessive disorder characterized in affected males by short stature resulting from a growth defect of the vertebral bodies. We have extended our earlier studies by analyzing 15 families with newly identified microsatellite DNA markers; analysis of recombination events with these markers indicates that the gene responsible for SEDL is located in Xp22 between DXS 16 and DXS 987 on an interval spanning approximately 2 Mb.
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