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
WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.
Kantaputra P et al.
American Journal of Medical Genetics. Part A, 2014
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
Bibi N et al.
The Australasian Journal of Dermatology, 2011
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene.
Mégarbané H et al.
American Journal of Medical Genetics. Part A, 2008
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
van der Hout AH et al.
European Journal of Human Genetics : Ejhg, 2008
EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families.
Lind LK et al.
Bmc Medical Genetics, 2006
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
Chassaing N et al.
Human Mutation, 2006
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