Results 21 to 30 of about 8,662 (264)

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Clin Cosmet Investig Dermatol
Introduction Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands.
Zhuang Y, Zhang R, Li M, Zou Y, Jiang S, Zhang Y, Liu S, Yu B.   +7 more
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

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

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

A Rare Case of Hypohidrotic Ectodermal Dysplasia in a Seven-Year-Old Child. [PDF]

Cureus, 2022
Ectodermal dysplasias (EDs) encompass a large group of inherited disorders that affects two or more ectodermally derived structures. Hair, sweat glands, teeth, and nails are the most common ectodermal derivates affected.
Shah SAY, Hassan WU, Sajjad W, Shabbir UB, Raza A.   +4 more
europepmc   +2 more sources

Hypohidrotic ectodermal dysplasia: A case report with review and latest updates. [PDF]

J Oral Maxillofac Pathol, 2022
Ectodermal dysplasia represents a group of inherited conditions in which two or more ectodermally derived anatomical structures fail to develop resulting in most notably anhidrosis/hypohidrosis, hypotrichosis and hypodontia.
Bagdey SP, Moharil RB, Dive A, Bodhade A.   +3 more
europepmc   +2 more sources

Hypohidrotic Ectodermal Dysplasia [PDF]

Journal of Clinical and Diagnostic Research, 2021
Chiranjit Ghosh, Shabnam Zahir, Shyamal Bar   +2 more
doaj   +6 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

Orofacial Features of Hypohidrotic Ectodermal Dysplasia [PDF]

Head and Neck Pathology, 2012
Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene.
Sibele Nascimento de Aquino, Mário Sérgio Oliveira Swerts, Lívia Máris Ribeiro Paranaíba, Letízia Monteiro de Barros, Hercílio Martelli Júnior, Daniella Reis Barbosa Martelli   +5 more
openaire   +5 more sources

Two novel ectodysplasin A gene mutations and prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia. [PDF]

Mol Genet Genomic Med, 2021
Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected.
Yu K, Shen Y, Jiang CL, Huang W, Wang F, Wu YQ.   +5 more
europepmc   +2 more sources