Results 11 to 20 of about 3,496 (219)
Hypohidrotic Ectodermal Dysplasia [PDF]
Journal of Clinical and Diagnostic Research, 2021 Chiranjit Ghosh +2 more
doaj +6 more sources
Exome sequencing enables diagnosis of X-linked hypohidrotic ectodermal dysplasia in patient with eosinophilic esophagitis and severe atopy [PDF]
Allergy, Asthma & Clinical Immunology, 2021 X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of ectodermal dysplasia. Clinical and genetic heterogeneity between different ectodermal dysplasia types and evidence of incomplete penetrance and variable expressivity increase ...
Bhavi P. Modi +11 more
doaj +2 more sources
Hypohidrotic ectodermal dysplasia: A rare entity. [PDF]
J Oral Maxillofac Pathol, 2023 Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder which involves a complex group of inherited conditions. This condition is characterised by the failed development of two or more ectodermal derived anatomic structure; for example, the skin, hair, nails, teeth, and sweat glands.
Srivastava H +3 more
europepmc +3 more sources
X-linked hypohidrotic ectodermal dysplasia associated with gastroesophageal reflux disease [PDF]
Molecular Genetics and Metabolism ReportsX-linked hypohidrotic ectodermal dysplasia (XLHED) is a rare genetic congenital disorder characterized by allelic heterogeneity, affecting the ectodermal structures.
Yamato Hanawa +4 more
doaj +2 more sources
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 +4 more sources
A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates
Journal of Family Medicine and Primary Care, 2018 Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic
Girish Gulab Meshram +2 more
doaj +2 more sources
Contemporary Clinical Dentistry, 2015 The ectodermal dysplasias are a heterogenous group of diseases, which have one or more anomalies of the hair, teeth, nails, and sweat glands. Hypohidrotic ectodermal dysplasia (HED) is the most common type and is usually transmitted as an X-linked ...
Manisha Goyal +3 more
doaj +2 more sources
Journal of Oral Research, 2022 Introduction: Ectodermal dysplasia is a rare genetic disorder that affects structures derived from ectoderm such as teeth, hair, nails, and sweat glands.
Héctor Rodríguez +4 more
doaj +3 more sources
Molecular aspects of hypohidrotic ectodermal dysplasia [PDF]
American Journal of Medical Genetics Part A, 2009 AbstractHypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is caused by mutations in any of the three Eda pathway genes: ectodysplasin (Eda), Edar, and Edaradd which encode a ligand, a receptor, and an intracellular signal mediator of a single linear pathway,
Marja L. Mikkola
openalex +3 more sources
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
doaj +2 more sources