Results 61 to 70 of about 1,001 (147)
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
A first case report of hypohidrotic ectodermal dysplasia from Oman
Clinical Case Reports, 2020 This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
Musallam Al‐Araimi +3 more
doaj +1 more source
Associations and outcomes of prenatally detected rhombencephalosynapsis
Prenatal Diagnosis, Volume 44, Issue 10, Page 1159-1169, September 2024.Abstract Objective To describe the association between prenatal imaging and neurodevelopmental outcomes of fetuses with rhombencephalosynapsis (RES). Study design Thirty‐four pregnancies complicated by RES were identified from our institutional databases based on US and/or MRI findings. Genetic testing results were gathered.
Yada Kunpalin +9 more
wiley +1 more source
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
Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008 Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj
Prosthodontic management of children with ectodermal dysplasia: A literature review
Saudi Dental Journal, 2019 Introduction: Ectodermal dysplasia (ED) is a large group of heterogeneous heritable conditions characterized by congenital defects of two or more ectodermal structures and their appendages.
Abdulaziz. A. Alowairdhi
doaj +1 more source
Clinical Case Reports, 2021 Hypohidrotic ectodermal dysplasia is a heritable disease, characterized by hypodontia, hypotrichosis, and anhidrosis. This clinical report demonstrates prosthetic rehabilitation of a patient complaining of impaired mastication and the odd appearance of ...
Heba Alajami, Jamal Saker
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
G3: Genes, Genomes, Genetics, 2019 In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial congenital hypotrichosis,
Danae Vasiliadis +7 more
doaj +1 more source
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