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
Hypohidrotic Ectodermal Dysplasias: Phenotypic and Genotypic Findings in 32 Cases.
Esener Z et al.
Clinical Genetics, 2026
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
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
Prenatal ultrasound findings of ectodermal dysplasia: a case report.
Li L et al.
Bmc Pregnancy and Childbirth, 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
[Linear lesions: A key dermatological feature of X-linked ectodermal dysplasia in a young girl].
Linder C et al.
Annales De Dermatologie Et De Venereologie, 2020
A novel EDA1 missense mutation in X-linked hypohidrotic ectodermal dysplasia.
Wang X et al.
Medicine, 2020
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Hammersen J et al.
Prenatal Diagnosis, 2019
Turkish Ectodermal Dysplasia Cohort: From Phenotype to Genotype in 17 Families.
Güven Y et al.
Cytogenetic and Genome Research, 2019
Novel EDA or EDAR Mutations Identified in Patients with X-Linked Hypohidrotic Ectodermal Dysplasia or Non-Syndromic Tooth Agenesis.
Zeng B et al.
Genes, 2017
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
Topical cetirizine and oral vitamin D: a valid treatment for hypotrichosis caused by ectodermal dysplasia.
Rossi A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2017
Ectodysplasin A in Biological Fluids and Diagnosis of Ectodermal Dysplasia.
Podzus J et al.
Journal of Dental Research, 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
Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.
Zeng B et al.
Genes, 2016
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
Prasad MK et al.
Journal of Medical Genetics, 2016
Novel EDA mutation in X-linked hypohidrotic ectodermal dysplasia and genotype-phenotype correlation.
Zeng B et al.
Oral Diseases, 2015
Mutations in EDA and EDAR Genes in a Large Mexican Hispanic Cohort with Hypohidrotic Ectodermal Dysplasia.
Salas-Alanis JC et al.
Annals of Dermatology, 2015
Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia.
Guazzarotti L et al.
Clinical Genetics, 2015
Craniofacial morphometric analysis of individuals with X-linked hypohidrotic ectodermal dysplasia.
Goodwin AF et al.
Molecular Genetics & Genomic Medicine, 2014
Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia.
Dietz J et al.
European Journal of Pediatrics, 2013
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
[Analysis of EDA gene mutation for a family affected with X-linked hypohidrotic ectodermal dysplasia].
Li M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013
Methylation state of the EDA gene promoter in Chinese X-linked hypohidrotic ectodermal dysplasia carriers.
Yin W et al.
Plos One, 2013
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.
Clauss F et al.
Clinical Genetics, 2010
Growth hormone neurosecretory dysfunction in a boy with hypohidrotic/anhidrotic ectodermal dysplasia: definition of short stature, molecular characterization and long-term hGH replacement treatment to final height.
Stagi S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2009
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia.
van Steensel MA et al.
American Journal of Medical Genetics. Part A, 2009
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families.
Lexner MO et al.
Clinical Genetics, 2008
Screening of EDA1 gene in X-linked anhidrotic ectodermal dysplasia using DHPLC: identification of 14 novel mutations in Italian patients.
Conte C et al.
Genetic Testing, 2008
Three novel mutations of the EDA gene in Chinese patients with X-linked hypohidrotic ectodermal dysplasia.
Zhao J et al.
The British Journal of Dermatology, 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
Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein.
Elomaa O et al.
Human Molecular Genetics, 2001
The mutation spectrum of the EDA gene in X-linked anhidrotic ectodermal dysplasia.
Pääkkönen K et al.
Human Mutation, 2001
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