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

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 pr...

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Detalles Bibliográficos
Autores principales: Wohlfart, Sigrun, Meiller, Ralph, Hammersen, Johanna, Park, Jung, Menzel-Severing, Johannes, Melichar, Volker O., Huttner, Kenneth, Johnson, Ramsey, Porte, Florence, Schneider, Holm
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6954509/
https://www.ncbi.nlm.nih.gov/pubmed/31924237
http://dx.doi.org/10.1186/s13023-019-1288-x

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