Results 111 to 120 of about 8,662 (264)
Molecular Genetics &Genomic Medicine, Volume 12, Issue 8, August 2024.This is a novel study regarding the facial features of paediatric patients with the Non‐photosensitive TTD clinical spectrum. Abstract Background Non‐photosensitive trichothiodystrophies (TTDs) are a diverse group of genodermatoses within the subset of conditions known as “sulphur‐deficient brittle hair” syndromes. A part of them has only recently been
Giulia Pascolini +5 more
wiley +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 +3 more
doaj +1 more source
wnt10a is required for zebrafish median fin fold maintenance and adult unpaired fin metamorphosis
Developmental Dynamics, Volume 253, Issue 6, Page 566-592, June 2024.Abstract Background Mutations of human WNT10A are associated with odonto‐ectodermal dysplasia syndromes. Here, we present analyses of wnt10a loss‐of‐function mutants in the zebrafish. Results wnt10a mutant zebrafish embryos display impaired tooth development and a collapsing median fin fold (MFF).
Erica L. Benard +6 more
wiley +1 more source
Prosthetic rehabilitation for a patient with hypohidrotic ectodermal dysplasia: a clinical case [PDF]
, 2015 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
Naturally occurring genetic diseases caused by de novo variants in domestic animals
Animal Genetics, Volume 55, Issue 3, Page 319-327, June 2024.Abstract With the advent of next‐generation sequencing, an increasing number of cases of de novo variants in domestic animals have been reported in scientific literature primarily associated with clinically severe phenotypes. The emergence of new variants at each generation is a crucial aspect in understanding the pathology of early‐onset diseases in ...
Luísa Azevedo +3 more
wiley +1 more source
Journal of Indian Academy of Oral Medicine and Radiology, 2012 Ectodermal dysplasia is a hereditary disorder characterized by developmental dystrophies of ectodermal derivatives- It is characterized by triad of signs comprising sparse hair, abnormal or missing teeth and inability to sweat.
M Naveen Kumar +5 more
doaj +1 more source
Do you know this syndrome? Clouston syndrome [PDF]
Anais Brasileiros de Dermatologia, 2017 Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic.
Sarah Sanches +3 more
doaj +2 more sources
Displasia Ectodérmica Hipohidrótica ligada ao X e eczema atópico - relato de um caso e discussão sobre os mecanismos do eczema [PDF]
, 2017 X-linked Hypohidrotic Ectodermal Dysplasia (XHED) is an inherited disorder that involves defective development of tissues derived from embryonic ectoderm and it is generally suspected by the triad of hypohidrosis, hypotrichosis and hypodontia. We report
Azevedo, Filomena +3 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.Patients with congenital insensitivity to pain with anhidrosis typically present with cellulitis in their fingers and toes, often leading to amputation due to self‐mutilating behavior. Osteodystrophy can result from a history of recurrent infections and surgeries.
Jun Hee Cho +13 more
wiley +1 more source
Convolutional neural networks for automatic detection of Focal Cortical Dysplasia [PDF]
arXiv, 2020 Focal cortical dysplasia (FCD) is one of the most common epileptogenic lesions associated with cortical development malformations. However, the accurate detection of the FCD relies on the radiologist professionalism, and in many cases, the lesion could be missed.
arxiv