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American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2004
AbstractEctodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic ...
Peter H, Itin, Susanna K, Fistarol
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AbstractEctodermal dysplasias are a large group of heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages: hair (hypotrichosis, partial, or total alopecia), nails (dystrophic, hypertrophic, abnormally keratinized), teeth (enamel defect or absent), and sweat glands (hypoplastic or aplastic ...
Peter H, Itin, Susanna K, Fistarol
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LEF1 haploinsufficiency causes ectodermal dysplasia
Clinical Genetics, 2020Ectodermal dysplasias are a family of genodermatoses commonly associated with variants in the ectodysplasin/NF‐κB or the Wnt/β‐catenin pathways. Both pathways are involved in signal transduction from ectoderm to mesenchyme during the development of ...
J. Lévy +8 more
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Dermatology, 1979
Description of a patient presenting an hidrotic ectodermal dysplasia. Clinical signs were hypotrichosis, dystrophic nails, palmoplantar keratoderma, absence of teeth and hyperhidrosis.
G E, Pierard, D, Van Neste, B, Letot
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Description of a patient presenting an hidrotic ectodermal dysplasia. Clinical signs were hypotrichosis, dystrophic nails, palmoplantar keratoderma, absence of teeth and hyperhidrosis.
G E, Pierard, D, Van Neste, B, Letot
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Hypohidrotic ectodermal dysplasia: clinical and molecular review
International Journal of Dermatology, 2018Hypohidrotic Ectodermal Dysplasia (HED) is a genetic human disorder which affects structures of ectodermal origin. Although there are autosomal recessive and dominant forms, X‐linked (XL) is the most frequent form of the disease. This XL‐HED phenotype is
Julia Reyes‐Reali +5 more
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Journal of dermatology (Print), 2019
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and hypodontia. The disease shows X‐linked recessive, autosomal dominant or autosomal recessive inheritance traits.
T. Okita +3 more
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Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder characterized by hypotrichosis, hypohidrosis and hypodontia. The disease shows X‐linked recessive, autosomal dominant or autosomal recessive inheritance traits.
T. Okita +3 more
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Anhidrotic ectodermal dysplasia
The Indian Journal of Pediatrics, 1968Two typical cases of anhidrotic ectodermal dysplasia occurring in heterosexual siblings of a family are reported. The role of consanguinity in the parents regarding the severity of the defect in these two siblings is stressed.
A, Bhogaonkar, S K, Khanna
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Journal of dermatology (Print), 2019
A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome were present, the ankyloblepharon was ...
Zhen Zhang +7 more
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A Chinese female infant presented with ectodermal dysplasia, cleft palate and severe skin erosions at birth. Although all the typical clinical features of ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome were present, the ankyloblepharon was ...
Zhen Zhang +7 more
semanticscholar +1 more source