Associated Papers
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Zhang H et al.
Molecular Genetics & Genomic Medicine, 2021
The novel EDAR p.L397H missense mutation causes autosomal dominant hypohidrotic ectodermal dysplasia.
Chaudhary AK et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Bilateral amastia in a female with X-linked hypohidrotic ectodermal dysplasia.
Al Marzouqi F et al.
The British Journal of Dermatology, 2014
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis.
Haghighi A et al.
The British Journal of Dermatology, 2013
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD et al.
The British Journal of Dermatology, 2012
Select a paper to view details