Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype–Phenotype: A Correlation Analysis
Author:
Publisher
Frontiers Media SA
Subject
Genetics (clinical),Genetics,Molecular Medicine
Reference46 articles.
1. Sequence variants in the EDAR gene causing hypohidrotic ectodermal dysplasia;Ahmad;Congenit. Anom. (Kyoto).,2018
2. Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia;Burger;Am. J. Med. Genet. A,2014
3. Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia;Callea;J. Eur. Acad. Dermatol. Venereol.,2015
4. A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family;Callea;J. Eur. Acad. Dermatol. Venereol.,2016
5. A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia;Chaudhary;Am. J. Med. Genet. A,2016
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1. The oligodontia phenotype in a X-linked hypohidrotic ectodermal dysplasia patient with a novel EVC2 variant;Heliyon;2024-01
2. Molecular basis and genetics of hypohidrotic ectodermal dysplasias;Vavilov Journal of Genetics and Breeding;2023-11-02
3. Structural insights into pathogenic mechanism of hypohidrotic ectodermal dysplasia caused by ectodysplasin A variants;Nature Communications;2023-02-11
4. Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency;Children;2023-02-10
5. Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases;International Journal of Molecular Sciences;2022-08-10
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