Associated Papers
Novel EDAR death domain variants in Thai patients with ectodermal dysplasia: clinical, molecular, and scoping review insights.
Thaweesapphithak S et al.
Bmc Oral Health, 2025
Ectodermal dysplasias and isolated ectodermal anomalies: expanding the clinical and molecular spectrum in a cohort of 36 patients.
Doğan Arı AB et al.
European Journal of Pediatrics, 2025
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Pathogenic signal peptide variants in the human genome.
Gutierrez Guarnizo SA et al.
Nar Genomics and Bioinformatics, 2023
37859801 (PubMed )
Supplement: lqad093_supplemental_files.zip › SupplementaryFileS4.xlsx › C-region
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
Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Khan SA et al.
European Journal of Dermatology : Ejd, 2020
Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia.
Plaisancié J et al.
American Journal of Medical Genetics. Part A, 2013
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