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
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases.
Chassaing N et al.
The British Journal of Dermatology, 2010
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