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 +7 more
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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
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A first case report of hypohidrotic ectodermal dysplasia from Oman [PDF]
Clinical Case Reports, 2020 This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
Musallam Al‐Araimi +3 more
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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
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A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses. [PDF]
PLoS ONEEctodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and
Frederik Krull +3 more
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Hypohidrotic ectodermal dysplasia and physical exercise [PDF]
Head & Face Medicine, 2012 Hammersen Johanna E
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Prosthodontic Rehabilitation of a Female Child with Ectodermal Dysplasia
Journal of the Dow University of Health Sciences, 2021 Ectodermal Dysplasia (ED) is an X-linked inherited disorder with male predominance. Female patients may show partial expression of Ectodermal Dysplasia. Significant findings include hypodontia, hyposalivation, protuberant lips, conical teeth and loss of
Aleshba Saba Khan +2 more
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Anhidrotic Ectodermal Dysplasia in an Adolescent Boy Case Report and Review of Literature
Amrita Journal of Medicine, 2021 Ectodermal dysplasia is a rare genetic disorder due to defects in structures derived from ectoderm. It occurs due to mutation in genes that encode proteins involved in the development of ectodermal structures.
Thirunavukkarasu Arun Babu +1 more
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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
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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
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