Article
Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.
Journal of medical genetics - 1 Jul 1990
Goodship J, Malcolm S, Clarke A, Pembrey M E
Abstract excerpt
Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X chromosome as expected. Ten DNA probes which are localised between Xp11 and Xq22 were used in the investigation. The difficulties in diagnosing the carrier state in...
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