EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]
Genes (Basel)Hypohidrotic ectodermal dysplasia is a developmental defect characterized by sparse or absent hair, missing or malformed teeth and defects in eccrine glands. Loss-of-function variants in the X-chromosomal EDA gene have been reported to cause hypohidrotic
Rietmann SJ +5 more
europepmc +5 more sources
Presentation of hypohidrotic ectodermal dysplasia in two siblings
Journal of Indian Academy of Oral Medicine and Radiology, 2015 Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder.
Uday Ginjupally +3 more
doaj +2 more sources
Lower Lid Ectropion in Hypohidrotic Ectodermal Dysplasia [PDF]
Case Reports in Ophthalmological Medicine, 2015 We report a case of a lower lid ectropion with ectodermal dysplasia and ectropion blepharoplasty surgery experience. A 14-year-old Han nationality male patient with typical characteristics of hypohidrotic ectodermal dysplasia presented to our clinic for ...
Xiaoyun Zhang +4 more
doaj +2 more sources
Česká Stomatologie a Praktické Zubní Lékařství, 2013 Background: Ectodermal dysplasia is a rare, genetically determined disease, which is characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands.
L. Kramerová, E. Kaplová
doaj +2 more sources
Unexplained Fever in Infancy: Report of a Rare Case of Hypohidrotic Ectodermal Dysplasia in an Infant. [PDF]
Cureus, 2023 Hypohidrotic ectodermal dysplasia (HED) is a genetic condition that affects structures derived from the ectoderm during embryonic development. These structures include the outermost layer of the primary germ layers, which give rise to various body parts ...
Gilitwala ZS, Satpute SR.
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 +14 more
doaj +2 more sources
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia. [PDF]
Clin Cosmet Investig DermatolIntroduction Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder that influences structures of ectodermal origin, such as teeth, hair, and sweat glands.
Zhuang Y +7 more
europepmc +2 more sources
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia. [PDF]
BMC Oral HealthThe 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 +7 more
europepmc +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 +13 more
europepmc +2 more sources
Hypohidrotic ectodermal dysplasia
Journal of Pakistan Association of Dermatologists, 2023 Ectodermal dysplasia (ED); is a rare disorder affecting ectodermal derivatives i.e. skin, nails, teeth, hair and sweat glands. It is divided into many subtypes. Among those, two major types involve (a) Hypohidrotic /Anhidrotic ED (Christ-Siemens-Touraine
Alina Amjad +3 more
semanticscholar +2 more sources