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.
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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
doaj +3 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
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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
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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The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant. [PDF]
Heliyon, 2023 Objectives To analyse the pathogenic genes in a patient with hypohidrotic ectodermal dysplasia (HED) and explore the relationship between pathogenic genes and the oligodontia phenotype.
Wu Y +6 more
europepmc +2 more sources
Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]
Cureus, 2023 Ectodermal dysplasia (ED) is a rare disorder that appears differently in clinical cases and can present with a variety of combinations and severities of abnormalities that can involve a variety of tissues.
Zaki H.
europepmc +2 more sources
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement. [PDF]
Int J Mol Sci, 2023 X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth.
Schneider H +4 more
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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 +2 more sources
EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]
Genes (Basel)Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic
Rietmann SJ +5 more
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