Associated Papers
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Yagi S et al.
The Journal of Dermatology, 2023
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var
Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia.
Ahmad F et al.
Congenital Anomalies, 2019
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
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
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
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.
Bibi N et al.
The Australasian Journal of Dermatology, 2011
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
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi AR et al.
The British Journal of Dermatology, 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
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.
Naeem M et al.
The British Journal of Dermatology, 2005
Select a paper to view details