Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
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
Novel insight into the ectodermal dysplasia 11A: Splicing variant of the EDARADD gene in a family with clinical variability and literature review.
Fazelzadeh Haghighi N et al.
The Journal of Dermatology, 2023
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Asano N et al.
The Journal of Dermatology, 2021
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
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y et al.
Cytogenetic and Genome Research, 2019
A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
Wohlfart S et al.
American Journal of Medical Genetics. Part A, 2016
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.
Kuramoto T et al.
Bmc Genetics, 2011
A Mongolian patient with hypohidrotic ectodermal dysplasia with a novel P121S variant in EDARADD.
Suda N et al.
Orthodontics & Craniofacial Research, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII-
Ectodermal dysplasia--a new variant?
Bartalos M et al.
Journal De Genetique Humaine, 1968
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