Results 11 to 20 of about 1,200 (161)
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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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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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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Hypohidrotic ectodermal dysplasia
Dermatology Online Journal, 2008 We report three children with hypohidrotic ectodermal dysplasia (HED), which includes two sisters with unaffected parents (and therefore likely autosomal recessive inheritance of HED) and an unrelated boy. Each patient presented with hypohidrosis, sparse hair, oligodontia with conical teeth, periorbital hyperpigmentation, eczematous dermatitis, and ...
Lu, Phoebe D, Schaffer, Julie V
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Contemporary Clinical Dentistry, 2015 Ectodermal dysplasia is a heterogeneous group of inherited disorders, which exhibit a classic triad of hypohydrosis, hypotrichosis, and hypodontia. Hypohidrotic or anhidrotic ectodermal dysplasia or Christ Siemens Touraine syndrome is the most common ...
Navanith Renahan +3 more
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Hereditary Hypohidrotic Ectodermal Dysplasia: Report of a Rare Case [PDF]
Journal of Clinical and Diagnostic Research, 2013 Hereditary Hypohidrotic Ectodermal Dysplasia (HHED), an X-linked, recessive, Mendelian character, is seen usually in males and it is inherited through female carriers.
Geetha Paramkusam +3 more
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Indian Journal of Plastic Surgery, 2010 Ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of tissues of ectodermal origin, such as hair, nails, teeth and skin. Dental manifestations include hypodontia, complete anodontia or malformed teeth.
Deshpande Sanjeev, Kumar Vikas
doaj +3 more sources