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
Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines.
Dubois A et al.
Jaad Case Reports, 2022
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
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus.
Bal E et al.
Human Mutation, 2007
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