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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Heuertz, S., Smahi, A., Wilkie, A.O.M. et al. Genetic mapping of Xp22.12–p22.31, with a refined localization for spondyloepiphyseal dysplasia (SEDL). Hum Genet 96, 407–410 (1995). https://doi.org/10.1007/BF00191797
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DOI: https://doi.org/10.1007/BF00191797