X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female
β 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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## Abstract Xβlinked 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 (ectodysplasinβA; EDAβA) involved in
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.