Associated Papers
Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.
Kovalskaia VA et al.
Orphanet Journal of Rare Diseases, 2026
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
EDA Mutations Causing X-Linked Recessive Oligodontia with Variable Expression.
Lee YJ et al.
Genes, 2024
Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.
Wu Y et al.
Human Genetics, 2024
Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.
Xing Q et al.
Oral Diseases, 2024
EDA Variants Are Responsible for Approximately 90% of Deciduous Tooth Agenesis.
Su L et al.
International Journal of Molecular Sciences, 2024
The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant.
Wu Y et al.
Heliyon, 2024
A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.
Zhuang Y et al.
Clinical, Cosmetic and Investigational Dermatology, 2024
Ectodysplasin pathogenic variants affecting the furin-cleavage site and unusual clinical features define X-linked hypohidrotic ectodermal dysplasia in India.
Chaudhary AK et al.
American Journal of Medical Genetics. Part A, 2022
Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance.
Gökdere S et al.
Frontiers in Genetics, 2022
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Ahmed HA et al.
Genes, 2021
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].
Wu JY et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2020
Safety and immunogenicity of Fc-EDA, a recombinant ectodysplasin A1 replacement protein, in human subjects.
Körber I et al.
British Journal of Clinical Pharmacology, 2020
X-linked hypohidrotic ectodermal dysplasia by a de novo recurrent variant in a Mexican patient.
Noriega-Juárez MA et al.
Boletin Medico Del Hospital Infantil De Mexico, 2020
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y et al.
Cytogenetic and Genome Research, 2019
Conservation analysis and pathogenicity prediction of mutant genes of ectodysplasin a.
He F et al.
Bmc Medical Genetics, 2018
Mutation Screening of the EDA Gene in Seven Chinese Families with X-Linked Hypohidrotic Ectodermal Dysplasia.
Liu Y et al.
Genetic Testing and Molecular Biomarkers, 2018
Mutational spectrum of EDA and EDAR genes in a cohort of Mexican mestizo patients with hypohidrotic ectodermal dysplasia.
Monroy-Jaramillo N et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.
Wohlfart S et al.
Journal of Human Genetics, 2016
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
[Occlusal reconstruction of a patient with hypohidrotic ectodermal dysplasia].
Zeng Y et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2013
Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.
He H et al.
Plos One, 2013
Hypohidrotic ectodermal dysplasia and immunodeficiency with coincident NEMO and EDA mutations.
Keller MD et al.
Frontiers in Immunology, 2011
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F et al.
Clinical Genetics, 2010
Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review.
Clauss F et al.
Journal of Dental Research, 2008
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
Lexner MO et al.
Clinical Genetics, 2008
[Mutations in the ED1 gene in families with X-linked hypohidrotic ectodermal dysplasia].
Fan HL et al.
Zhonghua Kou Qiang Yi Xue Za Zhi = Zhonghua Kouqiang Yixue Zazhi = Chinese Journal of Stomatology, 2007
Mutations in the ED1 gene in Japanese families with X-linked hypohidrotic ectodermal dysplasia.
Hashiguchi T et al.
Experimental Dermatology, 2003
Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A.
Schneider P et al.
The Journal of Biological Chemistry, 2001
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2001
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats.
Bayés M et al.
Human Molecular Genetics, 1998
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations.
Monreal AW et al.
American Journal of Human Genetics, 1998
Correlation between the phenotypes and genotypes of X-linked hypohidrotic ectodermal dysplasia and non-syndromic hypodontia caused by ectodysplasin-A mutations.
Zhang J et al.
European Journal of Medical Genetics, 0