Associated Papers
Novel EDARADD Variant in Ectodermal Dysplasia Unveiled by Whole-Exome Sequencing.
Kalayinia S et al.
Biochemical Genetics, 2025
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
Analyses of oligodontia phenotypes and genetic etiologies.
Zhou M et al.
International Journal of Oral Science, 2021
Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.
Kanchanasevee C et al.
Frontiers in Physiology, 2020
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O et al.
Journal of the American Heart Association, 2019
Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.
Barbato E et al.
Archives of Oral Biology, 2018
XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.
Talukder AK et al.
Plos One, 2015
25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC11_ERR166336
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.
Arte S et al.
Plos One, 2013
Isolated oligodontia associated with mutations in EDARADD, AXIN2, MSX1, and PAX9 genes.
Bergendal B et al.
American Journal of Medical Genetics. Part A, 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
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