Literature DB >> 26991760

A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia.

Ajay K Chaudhary1, Katta M Girisha2, Murali D Bashyam1.   

Abstract

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Year:  2016        PMID： 26991760     DOI： 10.1002/ajmg.a.37607

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  3 in total

1.  Phenotypic and Genotypic Features of Thai Patients With Nonsyndromic Tooth Agenesis and WNT10A Variants.

Authors:  Charinya Kanchanasevee; Kanokwan Sriwattanapong; Thanakorn Theerapanon; Sermporn Thaweesapphithak; Wanna Chetruengchai; Thantrira Porntaveetus; Vorasuk Shotelersuk
Journal:  Front Physiol       Date:  2020-11-19       Impact factor: 4.566

2.  Hypohidrotic ectodermal dysplasia and juxtaclavicular beaded lines.

Authors:  Anna Dubois; William Fostier; James Sampson; Justin Durham; Neil Rajan
Journal:  JAAD Case Rep       Date:  2022-08-22

3.  Pathogenic EDA Mutations in Chinese Han Families With Hypohidrotic Ectodermal Dysplasia and Genotype-Phenotype: A Correlation Analysis.

Authors:  Yang Han; Xiuli Wang; Liyun Zheng; Tingting Zhu; Yuwei Li; Jiaqi Hong; Congcong Xu; Peiguang Wang; Min Gao
Journal:  Front Genet       Date:  2020-02-04       Impact factor: 4.599
  3 in total

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