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Involvement of the respiratory and ocular systems in X-linked hypohidrotic ectodermal dysplasia

✍ Scribed by T.J.H. Zimmermann; J. Dietz; T. Kaercher; A.-T. Schneider; K. Huttner; R. Johnson; H. Schneider


Book ID
114412462
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
55 KB
Volume
13
Category
Article
ISSN
1526-0550

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X-linked hypohidrotic ectodermal dysplas
✍ Visinoni, οΏ½tila F. ;de Souza, Ricardo L.R. ;Freire-Maia, Newton ;Gollop, Thomaz πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 88 KB πŸ‘ 2 views

## 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