Hum Genet. 1991 Jul;87(3):338-40.

X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

Limon J, Filipiuk J, Nedoszytko B, Mrózek K, Castrén M, Larramendy M, Roszkiewicz J.

Source

Department of Biology and Genetics, Medical Academy, Gdańsk, Poland.

Abstract

A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.

PMID:: 1864610; [PubMed - indexed for MEDLINE]

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Cited by 6 PubMed Central articles

Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family. [J Med Genet. 1998]
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