Results 21 to 30 of about 3,496 (219)

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]

Genes (Basel), 2023
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic disorder characte-rised by abnormal development of the skin and its appendages, such as hair and sweat glands, the teeth, and mucous glands of the airways, resulting in serious ...
Schneider H, Hadj-Rabia S, Faschingbauer F, Bodemer C, Grange DK, Norton ME, Cavalli R, Tadini G, Stepan H, Clarke A, Guillén-Navarro E, Maier-Wohlfart S, Bouroubi A, Porte F.   +13 more
europepmc   +3 more sources

A Rare Case of Hypohidrotic Ectodermal Dysplasia

Journal of Clinical and Biomedical Sciences
A 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, Rajashekar T S, Suresh Kumar K, Hanumanthayya K   +3 more
doaj   +2 more sources

Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]

BMC Oral Health
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q.   +7 more
europepmc   +3 more sources

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

Mol Genet Genomic Med, 2021
Yu K, Shen Y, Jiang CL, Huang W, Wang F, Wu YQ.   +5 more
europepmc   +2 more sources

Application of a Conservative Prosthodontic Approach in the Rehabilitation of a 10-Year-Old Child with Hypohidrotic Ectodermal Dysplasia. [PDF]

Healthcare (Basel)
Alazmah A.
europepmc   +3 more sources

Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines. [PDF]

JAAD Case Rep, 2022
Dubois A, Fostier W, Sampson J, Durham J, Rajan N.   +4 more
europepmc   +3 more sources

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

Front Genet, 2022
Wang Y, Zhang C, Zhou B, Hui L, Zheng L, Chen X, Wang S, Yang L, Hao S, Zhang Q.   +9 more
europepmc   +3 more sources

Hypohidrotic ectodermal dysplasia and physical exercise [PDF]

Head & Face Medicine, 2012
Hammersen Johanna E
doaj   +4 more sources

Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis. [PDF]

Front Genet, 2020
Han Y, Wang X, Zheng L, Zhu T, Li Y, Hong J, Xu C, Wang P, Gao M.   +8 more
europepmc   +3 more sources

Prenatal Treatment of X-Linked Hypohidrotic Ectodermal Dysplasia using Recombinant Ectodysplasin in a Canine Model. [PDF]

J Pharmacol Exp Ther, 2019
Margolis CA, Schneider P, Huttner K, Kirby N, Houser TP, Wildman L, Grove GL, Schneider H, Casal ML.   +8 more
europepmc   +3 more sources