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
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Asano N et al.
The Journal of Dermatology, 2021
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
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C et al.
Human Mutation, 2011
Select a paper to view details