A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses. [PDF]
PLoS ONEEctodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and
Frederik Krull +3 more
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Hypohidrotic Ectodermal Dysplasia: A Case Report. [PDF]
Cureus, 2023 Introduction and importance: Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000–10,000 newborns.
Shamim H, Hanif S.
europepmc +8 more sources
Hypohidrotic ectodermal dysplasia
Indian Dermatology Online Journal, 2012 Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by the faulty development of the ectodermal structure, resulting in most notably anhydrosis/hypohydrosis, hypotrichosis and hypodontia.
Saurabh Agarwal, Shalini Gupta
doaj +10 more sources
Hypohidrotic ectodermal dysplasia: A rare entity. [PDF]
J Oral Maxillofac Pathol, 2023 Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin ...
Srivastava H +3 more
europepmc +4 more sources
Unexplained Fever in Infancy: Report of a Rare Case of Hypohidrotic Ectodermal Dysplasia in an Infant. [PDF]
Cureus, 2023 Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include the outermost layer of the primary germ layers, which give rise to various body parts ...
Gilitwala ZS, Satpute SR.
europepmc +4 more sources
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants [PDF]
Nature Communications, 2023 EDA variants are associated with X-linked hypohidrotic dysplasia. Here, the authors report the crystal structure of the human EDA-EDAR complex, reveal the important role of this complex in ectodermal development and uncover the structural mechanism of ...
Kang Yu +9 more
doaj +3 more sources
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]
BMC Oral HealthBackground The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci ...
Liu Y +7 more
europepmc +4 more sources
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [PDF]
Molecular Genetics and Metabolism ReportsX-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa +4 more
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First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant? [PDF]
Italian Journal of Pediatrics, 2021 Background Hypohidrotic Ectodermal Dysplasia (HED) is a genetic disorder which affects structures of ectodermal origin. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of disease.
Mario Tumminello +5 more
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A Rare Case of Hypohidrotic Ectodermal Dysplasia
Journal of Clinical and Biomedical SciencesA wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M +3 more
doaj +4 more sources