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Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia.

Advances in experimental medicine and biology - 1 Jan 2021

Yapijakis Christos, Gintoni Iphigenia, Chrousos George

Abstract excerpt

INTRODUCTION: Hypohidrotic ectodermal dysplasia (HED) is an X-linked recessive disorder, characterised by abnormally developed ectodermal tissues (sweat glands, enamel, hair, nails). HED is caused by mutations of the EDA1 gene (Xq13.1) which codes for ectodysplasin A, a transmembrane signalling protein, which plays a significant role in ectodermal differentiation. Here we present a case of prenatal testing for...

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PMID: 35023123
DOI: 10.1007/978-3-030-78787-5_41

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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