Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia
Author:
Affiliation:
1. Department of Dermatology Yamaguchi University Graduate School of Medicine Ube Japan
2. Division of Dermatology Niigata University Graduate School of Medical and Dental Sciences Niigata Japan
Publisher
Wiley
Subject
Dermatology,General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16044
Reference27 articles.
1. X–linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
2. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
3. Gene defect in ectodermal dysplasia implicates a death domain adapter in development
4. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus
5. The Anhidrotic Ectodermal Dysplasia Gene (EDA) Undergoes Alternative Splicing and Encodes Ectodysplasin-A with Deletion Mutations in Collagenous Repeats
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1. Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature;Italian Journal of Pediatrics;2024-06-05
2. Molecular basis and genetics of hypohidrotic ectodermal dysplasias;Vavilov Journal of Genetics and Breeding;2023-11-02
3. Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review;The Journal of Dermatology;2023-06-02
4. The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective;Frontiers in Genetics;2023-04-03
5. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14;Human Genetics and Genomics Advances;2023-04
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