Results 41 to 50 of about 2,089 (158)
hypohidrotiC eCtodermAl dysplAsiA As A rAre CAUse oF ChroniC rhinitis in Children [PDF]
New Medicine, 2016 Introduction. Chronic rhinitis in children may have different causes, both local – with changes being present only in the nasalcavity – or systemic, with nasal congestion as one of the symptoms of a bigger clinical picture.Aim.
Monika Jabłońska-Jesionowska +1 more
doaj +1 more source
Clinical Cardiology, Volume 49, Issue 5, May 2026.In this large‐scale UK Biobank analysis, elevated plasma EDA2R was associated with a 74% higher risk of cardiovascular disease and a 177% higher risk of all‐cause mortality, with a 7.2‐year loss in life expectancy in the highest EDA2R group, suggesting its potential as a prognostic biomarker and therapeutic target.
Ziqing Ruan +6 more
wiley +1 more source
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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Direct and indirect action modes of acetylcholine in cholinergic urticaria
Allergology International, 2021 Cholinergic urticaria (CholU) manifests small, itchy and/or painful wheals occurring upon perspiration and mechanically involving acetylcholine (Ach).
Yoshiki Tokura
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Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear +7 more
wiley +1 more source
Christ–Siemens–Touraine syndrome: A rare case report
Journal of Pharmacy and Bioallied Sciences, 2019 Christ–Siemens–Touraine syndrome/hypohidrotic ectodermal dysplasia (HED) is a heterogeneous group of inherited disorders with primary defects in tissues derived from embryonic ectoderm such as hair, tooth, nail, and sweat glands.
Anoop Kumar +3 more
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Molecular Genetics & Genomic Medicine, 2021 Background Hypohidrotic ectodermal dysplasia (HED) is mainly caused by ectodysplasin A (EDA) gene mutation. Fetus with genetic deficiency of EDA can be prenatally corrected.
Kang Yu +5 more
doaj +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Cellular & Molecular Biology Letters, 2019 Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes.
Marzieh Rahbaran +5 more
doaj +1 more source
Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study
Oral Diseases, Volume 32, Issue 5, Page 1451-1459, May 2026.ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi +5 more
wiley +1 more source