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
Eight EDA mutations in Chinese patients with tooth agenesis and genotype-phenotype analysis.
Yu K et al.
Oral Diseases, 2024
A Causal Treatment for X-Linked Hypohidrotic Ectodermal Dysplasia: Long-Term Results of Short-Term Perinatal Ectodysplasin A1 Replacement.
Schneider H et al.
International Journal of Molecular Sciences, 2023
Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants.
Yu K et al.
Nature Communications, 2023
Expanding the genetic spectrum of tooth agenesis using whole-exome sequencing.
Yu K et al.
Clinical Genetics, 2022
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
Ectodermal dysplasias: New perspectives on the treatment of so far immedicable genetic disorders.
Schneider H
Frontiers in Genetics, 2022
Reliability of prenatal detection of X-linked hypohidrotic ectodermal dysplasia by tooth germ sonography.
Hammersen J et al.
Prenatal Diagnosis, 2019
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia.
Schneider H et al.
The New England Journal of Medicine, 2018
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
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
[BMP2/BMP4 genetic evaluation in 40 patients with tooth agenesis].
Zou C et al.
Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2015
SNAI2 mutation causes human piebaldism.
Yang YJ et al.
American Journal of Medical Genetics. Part A, 2014
Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.
Yang Y et al.
Journal of Dental Research, 2013
A founder ectodysplasin A receptor (EDAR) mutation results in a high frequency of the autosomal recessive form of hypohidrotic ectodermal dysplasia in India.
Bashyam MD et al.
The British Journal of Dermatology, 2012
Molecular genetic analysis of patients from India with hypohidrotic ectodermal dysplasia reveals novel mutations in the EDA and EDAR genes.
RamaDevi AR et al.
The British Journal of Dermatology, 2008