Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study

Abstract 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 cli...

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Bibliographic Details
Main Authors: Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte, Holm Schneider
Format: Article
Language:English
Published: BMC 2020-01-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hypohidrotic ectodermal dysplasia
Natural history
Ectodysplasin A
Oligodontia
Dry eye
Heat intolerance
Online Access:https://doi.org/10.1186/s13023-019-1288-x

Internet

https://doi.org/10.1186/s13023-019-1288-x

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