Article
Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.
Orphanet journal of rare diseases - 10 Jan 2020
Wohlfart Sigrun, Meiller Ralph, Hammersen Johanna, Park Jung, Menzel-Severing Johannes, Melichar Volker O, Huttner Kenneth, Johnson Ramsey, Porte Florence, Schneider Holm
Abstract excerpt
BACKGROUND: 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 teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an...
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