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Corrigendum: A new variant of the ectodysplasin A receptor death domain gene associated with anhidrotic ectodermal dysplasia in a Turkish family and its simple diagnosis by restriction fragment length polymorphism [Genes Genet. Syst. (2023) 98, p. 171-178].
Genes Genet Syst
November 2024
Department of Biology, Institute of Graduate Education, Adiyaman University.
The ClinVar accession number on p. 176 (SCV002817173) should be replaced with the correct number, SCV002817373. The PDF file for DOI: https://doi.
View Article and Find Full Text PDFHypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Olof Palmes Allé 49, 8200 Aarhus N, Denmark.
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.
View Article and Find Full Text PDF[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Zhonghua Er Ke Za Zhi
October 2024
Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Provincial Clinical Research Center for Pediatric Diseases, Henan Children's Neurodevelopmental Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
Phenotypic Heterogeneity in ORAI-1-Associated Congenital Myopathy.
Glob Med Genet
December 2024
Department of Neurology, National Institute of Mental Health and Neuro Sciences, Bengaluru, Karnataka, India.
Article Synopsis
- * The article discusses a genetically confirmed case of a young woman with progressive muscle weakness and eye movement problems, linked to a novel mutation in the ORAI-1 gene.
- * Muscle imaging revealed fatty infiltration and a biopsy indicated congenital fiber-type disproportion, expanding the known symptoms of ORAI-1-related myopathy to include these specific features.
Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia.
Genes (Basel)
June 2024
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.
Article Synopsis
- Hypohidrotic ectodermal dysplasia is a genetic condition resulting in sparse hair, missing or malformed teeth, and issues with sweat glands, caused by mutations in an X-chromosome gene.
- A male cat was studied that displayed symptoms like complete undercoat absence and abnormal teeth, leading to a genetic examination.
- Whole-genome sequencing uncovered a specific gene variant linked to this condition, matching a known human variant, marking this as the first report of this disorder in cats.
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