domingo, 12 de enero de 2020

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study | Orphanet Journal of Rare Diseases | Full Text

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study | Orphanet Journal of Rare Diseases | Full Text

X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teet...
Authors:Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte and Holm Schneider
Citation:Orphanet Journal of Rare Diseases 2020 15:7
Content type:Research
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