Results 91 to 100 of about 1,792 (188)

Rare Pediatric Genetic Case Report of X-linked Hypohidrotic Ectodermal Dysplasia Type 1. [PDF]

Cureus, 2023
Zaki H.
europepmc   +1 more source

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia

, 2023
Objective: Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by hypodontia, hypohidrosis and hypotrichosis. It is caused by mutations in Ectodysplasin
Nasioulas, G., Gintoni, I., Tsaousis, G.N., Douka, A., Agiannitopoulos, K., Potska, K., Papadopoulou, E., Yapijakis, C.   +7 more
core  

Unexplained Fever in Infancy: Report of a Rare Case of Hypohidrotic Ectodermal Dysplasia in an Infant. [PDF]

Cureus, 2023
Gilitwala ZS, Satpute SR.
europepmc   +1 more source

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   +1 more source

Hypohidrotic ectodermal dysplasia - a case report

, 2004
hypohidrotic ectodermal ...
Nielsen, L.A., Kreiborg, S., Hertz, J.M., Lexner, M.O., Niebuhr, E.   +4 more
core  

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
Reinartz S, Weiß C, Heppelmann M, Hewicker-Trautwein M, Hellige M, Willen L, Feige K, Schneider P, Distl O.   +8 more
europepmc   +1 more source

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

Children (Basel), 2022
Callea M, Bignotti S, Semeraro F, Cammarata-Scalisi F, El-Feghaly J, Morabito A, Romano V, Willoughby CE.   +7 more
europepmc   +1 more source

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
Liu X, Zhao Y, Zhu J.
europepmc   +1 more source

Hypohidrotic Ectodermal Dysplasia [PDF]

, 2020
ELBEK ÇUBUKÇU, ÇİĞDEM, ÖZKINAY, FERİŞTAH FERDA, ÖNÇAĞ, RÜŞTÜ ÖZANT   +2 more
openaire   +3 more sources

Hypohidrotic Ectodermal Dysplasia (HED)

RGUHS Journal of Medical Sciences, 2017
Hypohidrotic ectodermal dysplasia is a rare genetic disorder presenting with features of faulty development of ectodermal structures. A boy with hypohidrosis hypotrichosis and hypodontia is reported.
openaire   +1 more source