Results 41 to 50 of about 1,792 (188)

Auto-percepção dos portadores de Amelogênese Imperfeita e Displasia [PDF]

, 2012
TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.A Amelogênese Imperfeita é um distúrbio hereditário caracterizado pela formação anormal de esmalte, o que gera dentes com alteração de cor, sensibilidade e
Klita, Ana Paula Haisi
core  

Two‐Year Follow‐Up of Ectodermal Dysplasia‐Syndactyly Syndrome 1 in a Palestinian Child Successfully Treated With Topical Minoxidil and Tretinoin: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
Clinical timeline of the reported EDSS1 case, illustrating disease onset, diagnostic milestones, treatment initiation, treatment modifications, and longitudinal response to combined topical minoxidil and tretinoin therapy from infancy through the last follow‐up.
Bana O. Aburajab, Hamza M. A. Ghaith, Nada Ishti, Muawia O. Aburajab   +3 more
wiley   +1 more source

A Splice Defect in the EDA Gene in Dogs with an X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Phenotype [PDF]

, 2016
X-linked hypohidrotic ectodermal dysplasia (XLHED) caused by variants in the EDA gene represents the most common ectodermal dysplasia in humans. We investigated three male mixed-breed dogs with an ectodermal dysplasia phenotype characterized by marked ...
Kaufmann, Ronnie, Vidhya Jagannathan, Welle, Monika Maria, Tosso Leeb, Waluk, Dominik Pawel, Galichet, Arnaud, Dominik P. Waluk, Cord Drögemüller, Müller, Eliane Jasmine, Arnaud Galichet, Jagannathan, Vidhya, Ronnie Kaufmann, Eliane J. Müller, Drögemüller, Cord, Leeb, Tosso, Zur, Gila, Monika M. Welle, Gila Zur   +17 more
core   +1 more source

Ectodermal dysplasia: Report of two cases in a family and literature review

Journal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi, Dheeraj Voulligonda, Bharadwaj Bhogavaram, P Krishnanjaneya Reddy   +3 more
doaj   +1 more source

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source

Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia

, 1990
Hypohidrotic ectodermal dysplasia has been mapped to Xq11-q13 by linkage studies and by a translocation in a manifesting female. We report a family with hypohidrotic ectodermal dysplasia in which the disease did not segregate with this region of the X ...
Malcolm, S., Clarke, Angus John, Pembrey, M. E., Goodship, J.   +3 more
core   +1 more source

Plasma EDA2R and Risk of Cardiovascular Diseases and All‐Cause Mortality: Analysis of the UK Biobank Cohort

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, Jiabin Tu, Hongli Xu, Yupeng Zhi, Chun Chen, Kaiyang Lin, Yansong Guo   +6 more
wiley   +1 more source

Orofacial Features of Hypohidrotic Ectodermal Dysplasia [PDF]

Head and Neck Pathology, 2012
Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene.
Sibele Nascimento, de Aquino, Lívia Maris Ribeiro, Paranaíba, Mário Sérgio Oliveira, Swerts, Daniella Reis Barbosa, Martelli, Letízia Monteiro, de Barros, Hercílio, Martelli Júnior   +5 more
openaire   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

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, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia

, 2007
We report an inbred Tunisian family, in which the proband manifested signs of hypohidrotic ectodermal dysplasia, subtotal amelia, scoliosis and left renal agenesis.
Nassib, N, Gharbi, H, Kaissi, A A, Safi, H, Ghachem, M B, Djnziri, M, Chehida, F B   +6 more
core   +1 more source