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Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia

Goodship, J., Malcolm, S., Clarke, Angus John and Pembrey, M. E. 1990. Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia. Journal of Medical Genetics 27 (7) , pp. 422-425. 10.1136/jmg.27.7.422

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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 this condition and the possibility of non-allelic heterogeneity are discussed.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Publisher: BMJ
ISSN: 1468-6244
Last Modified: 04 Jun 2017 06:28

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