Varaico: Literature-Extracted Genetic Variants

Gene:EDA
Variant:p.R153C
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EDA

NM_001399.5:p.R153C

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

41645317 (PubMed )
Supplement: 13023_2026_4211_MOESM1_ESM.xlsx › ____1

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

Genetic profiling and diagnostic strategies for patients with ectodermal dysplasias in Korea.

Kim MJ et al.

Orphanet Journal of Rare Diseases, 2024

A Novel Ectodysplasin a Gene mutation of X-Linked Hypohidrotic Ectodermal Dysplasia.

Zhuang Y et al.

Clinical, Cosmetic and Investigational Dermatology, 2024

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

[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

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

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

Future developments in XLHED treatment approaches.

Huttner K

American Journal of Medical Genetics. Part A, 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

23625373 (PubMed )
Supplement: ds_10.1177_0022034513487557.pdf

Involvement of and interaction between WNT10A and EDA mutations in tooth agenesis cases in the Chinese population.

He H et al.

Plos One, 2013

[Detection of ED1 gene mutations in six pedigrees with hypohidrotic ectodermal dysplasia].

Wu QH et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2012

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings.

Clauss F et al.

Clinical Genetics, 2010

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

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

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