Results 11 to 20 of about 6,864 (183)

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   +10 more sources

Attitudes of female carriers of X-linked hypohidrotic ectodermal dysplasia towards prenatal treatment and their decisions during a pregnancy with a male fetus. [PDF]

Orphanet J Rare Dis
X-linked hypohidrotic ectodermal dysplasia (XLHED) is a severe genetic disorder that may be treatable with short-term protein replacement therapy during fetal development. This is currently being investigated in a multicenter clinical trial.
Schneider H, Schneider M, Lia M, Grange DK, Hadj-Rabia S, Clarke A, Fete M, Jaulent A, Guiraud M, Odibo A, Faschingbauer F.   +10 more
europepmc   +2 more sources

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

A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report [PDF]

Molecular Genetics and Metabolism Reports, 2021
Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.).
Baiba Alksere, Liene Kornejeva, Ieva Grinfelde, Aigars Dzalbs, Dace Enkure, Una Conka, Santa Andersone, Arita Blumberga, Liene Nikitina-Zake, Liga Kangare, Ilze Radovica-Spalvina, Inta Vasiljeva, Linda Gailite, Juris Erenpreiss, Violeta Fodina   +14 more
doaj   +2 more sources

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   +2 more sources

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

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

BMC Oral Health
The aim of this study was to analyse the differences in the phenotypes of missing teeth between a pair of brothers with hypohidrotic ectodermal dysplasia (HED) and to investigate the underlying mechanism by comparing the mutated gene loci between the ...
Liu Y, Sun J, Zhang C, Wu Y, Ma S, Li X, Wu X, Gao Q.   +7 more
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

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

Hypohidrotic Ectodermal Dysplasia [PDF]

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