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X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female

✍ Scribed by Catherine Turleau; P. Niaudet; Marie-Odile Cabanis; Ghislaine Plessis; D. Cau; J. de Grouchy


Book ID
115089910
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
463 KB
Volume
35
Category
Article
ISSN
0009-9163

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X-linked hypohidrotic ectodermal dysplas
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## Abstract X‐linked hypohidrotic ectodermal dysplasia (XLHED) is characterized by severe hypohidrosis, hypotrichosis, and hypodontia. The gene responsible for this pleiotropic syndrome (__ED1__) consists of 12 exons, 8 of them coding for a transmembrane protein (ectodysplasin‐A; EDA‐A) involved in

X-linked anhidrotic ectodermal dysplasia
✍ Janusz Limon; Jadwiga Filipiuk; Bogustaw Nedoszytko; Krzysztof MrΓ³zek; Maija Cas πŸ“‚ Article πŸ“… 1991 πŸ› Springer 🌐 English βš– 582 KB

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 Xql3.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.