@article {8086,
	title = {[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].},
	journal = {Arch Argent Pediatr},
	volume = {113},
	year = {2015},
	month = {2015 Dec 1},
	pages = {e341-4},
	abstract = {<p>Ectodermal dysplasia encompasses more than 200 clinically distinct entities, which affect at least two structures derived from the ectoderm, including the skin, hair, nails, teeth, sweat glands, and sebaceous glands. X-linked hypohidrotic ectodermal dysplasia is the most common type and is caused by mutation of the EDA gene that encodes Ectodysplasin-A. It occurs in less than 1 in 100 000 individuals and is clinically characterized by hypodontia, hypohidrosis, hypotrichosis, and eye dis orders. We present a child evaluated in a multidisciplinary manner with clinical and molecular diagnosis of X-linked hypohidrotic ectodermal dysplasia with type missense mutation c.1133C> T; p.T378M in EDA gene.</p>},
	issn = {1668-3501},
	author = {Callea, Michele and Yavuz, Izzet and Clarich, Gabriella and Cammarata-Scalisi, Francisco}
}
