X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female
- PMID: 2736795
- DOI: 10.1111/j.1399-0004.1989.tb02973.x
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female
Abstract
A female patient with features of hypohidrotic ectodermal dysplasia (HED) was found to be a carrier of a de novo t(X;12) with a breakpoint in Xq13.1. This is the second instance of an X/autosome translocation, with apparently the same X breakpoint, reported in HED.
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