Associated Papers
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.
Kablan A et al.
Italian Journal of Pediatrics, 2024
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.
Rencuzogullari E et al.
Genes & Genetic Systems, 2023
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.
Fazelzadeh Haghighi N et al.
The Journal of Dermatology, 2023
Molecular basis and genetics of hypohidrotic ectodermal dysplasias.
Kovalskaia VA et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2023
Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines.
Dubois A et al.
Jaad Case Reports, 2022
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Asano N et al.
The Journal of Dermatology, 2021
Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.
Han Y et al.
Frontiers in Genetics, 2020
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 2016
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
Wohlfart S et al.
American Journal of Medical Genetics. Part A, 2016
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