Results 21 to 30 of about 78,340 (172)

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle. [PDF]

Genes (Basel), 2023
Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical
Reinartz S, Weiß C, Heppelmann M, Hewicker-Trautwein M, Hellige M, Willen L, Feige K, Schneider P, Distl O.   +8 more
europepmc   +2 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   +3 more sources

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature. [PDF]

Ital J Pediatr
Background Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that results in the abnormal development of structures derived from ectodermal tissue. This rare condition predominantly affects the hair, nails, eccrine glands, and teeth.
Kablan A, Tasdelen E.
europepmc   +2 more sources

Extended Overview of Ocular Phenotype with Recent Advances in Hypohidrotic Ectodermal Dysplasia. [PDF]

Children (Basel), 2022
The term ectodermal dysplasias (EDs) describes a heterogeneous group of inherited developmental disorders that affect several tissues of ectodermal origin.
Callea M, Bignotti S, Semeraro F, Cammarata-Scalisi F, El-Feghaly J, Morabito A, Romano V, Willoughby CE.   +7 more
europepmc   +2 more sources

Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy [PDF]

Allergy, Asthma & Clinical Immunology, 2021
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi, Kate L. Del Bel, Susan Lin, Mehul Sharma, Phillip A. Richmond, Clara D. M. van Karnebeek, Edmond S. Chan, Vishal Avinashi, Wingfield E. Rehmus, Catherine M. Biggs, Wyeth W. Wasserman, Stuart E. Turvey   +11 more
doaj   +2 more sources

A novel mutation in the collagen domain of EDA results in hypohidrotic ectodermal dysplasia by impacting the receptor-binding capability. [PDF]

Mol Genet Genomic Med, 2023
Hypohidrotic ectodermal dysplasia (HED) mainly results from gene mutations in the EDA/EDAR/NF‐κB pathway. Function analysis of the mutations in the collagen domain of ectodysplasin A (EDA)result in HED has been rarely studied.
Liu X, Zhao Y, Zhu J.
europepmc   +2 more sources

An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Cureus
We report a case of a patient with genetic sequencing-confirmed X-linked hypohidrotic ectodermal dysplasia without the typical characteristic hair growth abnormalities with the disorder.
Nardone AJ, Kirwin DS, Lyford WH.
europepmc   +2 more sources

Rare X-Linked Hypohidrotic Ectodermal Dysplasia in Females Associated with Ectodysplasin-A Variants and the X-Chromosome Inactivation Pattern. [PDF]

Diagnostics (Basel), 2022
The goal of this study was to identify the pathogenic gene variants in female patients with severe X-linked hypohidrotic ectodermal dysplasia (XLHED). Whole-exome sequencing (WES) and Sanger sequencing were used to screen for the pathogenic gene variants.
Liu H, Su L, Liu H, Zheng J, Feng H, Liu Y, Yu M, Han D.   +7 more
europepmc   +2 more sources

A large deletion encompassing exon 2 of the ectodysplasin A (EDA) gene in a British blue crossbred calf with hypohidrotic ectodermal dysplasia. [PDF]

Acta Vet Scand, 2022
Background Hypohidrotic ectodermal dysplasia (HED) is a congenital syndrome of mammals affecting organs and tissues of ectodermal origin characterized by absence or hypoplasia of hair, teeth, and eccrine glands.
Capuzzello G, Jacinto JGP, Häfliger IM, Chapman GE, Martin SS, Viora L, Jonsson NN, Drögemüller C.   +7 more
europepmc   +2 more sources

Three Variants Affecting Exon 1 of Ectodysplasin A Cause X-Linked Hypohidrotic Ectodermal Dysplasia: Clinical and Molecular Characteristics. [PDF]

Front Genet, 2022
Background: Ectodysplasin A (EDA) variations are major pathogenic factors for hypohidrotic ectodermal dysplasia (HED), the most common form of ectodermal dysplasia (ED), characterized by hypotrichosis, hypohidrosis, hypodontia, and other oral features ...
Wang Y, Zhang C, Zhou B, Hui L, Zheng L, Chen X, Wang S, Yang L, Hao S, Zhang Q.   +9 more
europepmc   +2 more sources