Results 51 to 60 of about 737 (185)
Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6‐Year Follow‐Up
Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6‐year ...
Antonione Santos Bezerra Pinto +6 more
wiley +1 more source
Clouston syndrome with palmoplantar keratoderma
Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene
M P Singh +3 more
doaj +1 more source
Severe Ocular Surface abnormalities in a child and Ectodermal Dysplasia: A Case Report. [PDF]
Ectodermal Dysplasia is a disorder that occurs due to abnormal development of at least two major ectodermal derivatives in the developing embryo. Author report the case of a 10 year old male child who was referred to our department with complaints of ...
Minhas, Shailender +2 more
core +2 more sources
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity [PDF]
Clouston syndrome or hidrotic ectodermal dysplasia (HED) is a rare dominant genodermatosis characterized by palmoplantar hyperkeratosis, generalized alopecia and nail defects.
Barbe, Michael T. +7 more
core
An update on the aetiology of orofacial clefts [PDF]
Objective. To review recent data on the aetiology of cleft lip and palate. Data sources. MEDLINE literature search (1986-2003). Study selection. Literature and data on aetiology of cleft lip and palate using the following key words: 'cleft lip', 'cleft ...
Hägg, U, Wong, FK
core
Hereditary ectodermal dysplasia is a rare group of inherited disorders characterized by aplasia or dysplasia of two or more tissues of ectodermal origin such as hair, nails, teeth, and skin. The dental characteristics of this syndrome include anodontia or hypodontia of the primary and/or permanent teeth, hypoplastic conical teeth, and underdevelopment ...
Neha Jain +9 more
wiley +1 more source
A Rare Case of Hypohidrotic Ectodermal Dysplasia
A wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M +3 more
doaj +1 more source
We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants.
Yuting Lu +10 more
doaj +1 more source
Acil serviste ateşin nadir bir nedeni: anhidrotik ektodermal displazi [PDF]
SUMMARY Ectodermal dysplasia is a rare disease that present with: hypotrichosis, hypodontia, and typically absence of eccrine sweating. It consists of two basic forms; anhidrotic and hidrotic.
Bilir, Özlem +4 more
core
Prosthetic rehabilitation for a patient with hypohidrotic ectodermal dysplasia: a clinical case [PDF]
Hypohidrotic ectodermal dysplasia (HED) is a hereditary syndrome, characterized by a classic triad of hypotrichosis, hypodontia and hypohidrosis. The case of an 8-year-old girl with HED presenting oligodontia and marked resorption of maxillary and ...
RamaRaju, Alluri +3 more
core +2 more sources

