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Article

Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.

The New England journal of medicine - 26 Apr 2018

Schneider Holm, Faschingbauer Florian, Schuepbach-Mallepell Sonia, Körber Iris, Wohlfart Sigrun, Dick Angela, Wahlbuhl Mandy, Kowalczyk-Quintas Christine, Vigolo Michele, Kirby Neil, Tannert Corinna, Rompel Oliver, Rascher Wolfgang, Beckmann Matthias W, Schneider Pascal

Abstract excerpt

Genetic deficiency of ectodysplasin A (EDA) causes X-linked hypohidrotic ectodermal dysplasia (XLHED), in which the development of sweat glands is irreversibly impaired, an condition that can lead to life-threatening hyperthermia. We observed normal development of mouse fetuses with Eda mutations after they had been exposed in utero to a recombinant protein that includes the receptor-binding domain of EDA. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29694819
DOI: 10.1056/NEJMoa1714322

Genes

EDA

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