<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Callea, Michele</style></author><author><style face="normal" font="default" size="100%">Yavuz, Izzet</style></author><author><style face="normal" font="default" size="100%">Clarich, Gabriella</style></author><author><style face="normal" font="default" size="100%">Cammarata-Scalisi, Francisco</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">[Clinical and molecular study in a child with X-linked hypohidrotic ectodermal dysplasia].</style></title><secondary-title><style face="normal" font="default" size="100%">Arch Argent Pediatr</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Arch Argent Pediatr</style></alt-title></titles><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Dec 1</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">113</style></volume><pages><style face="normal" font="default" size="100%">e341-4</style></pages><language><style face="normal" font="default" size="100%">spa</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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&gt; T; p.T378M in EDA gene.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">6</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26593813?dopt=Abstract</style></custom1></record></records></xml>