Results 51 to 60 of about 8,662 (264)
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
doaj +1 more source
Connecting the dots towards precision orthodontics
Orthodontics &Craniofacial Research, Volume 26, Issue S1, Page 8-19, December 2023., 2023 Abstract Precision orthodontics entails the use of personalized clinical, biological, social and environmental knowledge of each patient for deep individualized clinical phenotyping and diagnosis combined with the delivery of care using advanced customized devices, technologies and biologics.
Sunil Kapila +4 more
wiley +1 more source
Cureus, 2023 Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by a mutation in either the ectodysplasin (EDA), ectodysplasin A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result in
Hammad Aftab +2 more
semanticscholar +1 more source
Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis. [PDF]
Front Genet, 2020 Han Y +8 more
europepmc +3 more sources
, 2022 Ectodermal dysplasias are a heterogeneous group of rare inherited disorders. Molecular findings and clarification of cell sig naling processes and ectodermal-mesenchyme interaction enabled the development of a clinical-functional model, which in turn ...
Antunes, D +3 more
core +1 more source
Clinical and Translational Allergy, Volume 13, Issue 5, May 2023., 2023 Abstract Background Eczema is the most common form of dermatitis and also the starting point of atopic march. Although many eczema‐associated allergic and immunologic disorders have been studied, there remains a gap in the systematic quantitative knowledge regarding the relationships between all childhood disorders and eczema.
Huiwen Zheng +6 more
wiley +1 more source
Prototypical Cross-domain Knowledge Transfer for Cervical Dysplasia Visual Inspection [PDF]
, 2023 Early detection of dysplasia of the cervix is critical for cervical cancer treatment. However, automatic cervical dysplasia diagnosis via visual inspection, which is more appropriate in low-resource settings, remains a challenging problem. Though promising results have been obtained by recent deep learning models, their performance is significantly ...
arxiv +1 more source
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
doaj +1 more source
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
openaire +5 more sources
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, Volume 193, Issue 1, Page 44-55, March 2023., 2023 Abstract This paper focuses on the question of, “When is the best time to identify an individual at risk for a treatable genetic condition?” In this review, we describe a framework for considering the optimal timing for pursuing genetic and genomic screening for treatable genetic conditions incorporating a lifespan approach.
Melissa A. Parisi +7 more
wiley +1 more source