Literature DB >> 24641098

Identification of a novel frameshift mutation in the EDAR gene causing autosomal dominant hypohidrotic ectodermal dysplasia.

M Callea1, C E Willoughby, P Nieminen, M Di Stazio, E Bellacchio, S Giglio, I Sani, A Vinciguerra, M Maglione, G Tadini, G Clarich.   

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Year:  2014        PMID： 24641098     DOI： 10.1111/jdv.12457

Source DB:  PubMed          Journal:  J Eur Acad Dermatol Venereol        ISSN： 0926-9959            Impact factor:   6.166


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  2 in total

1.  Meta-analysis of genome-wide association studies identifies 8 novel loci involved in shape variation of human head hair.

Authors:  Fan Liu; Yan Chen; Gu Zhu; Pirro G Hysi; Sijie Wu; Kaustubh Adhikari; Krystal Breslin; Ewelina Pospiech; Merel A Hamer; Fuduan Peng; Charanya Muralidharan; Victor Acuna-Alonzo; Samuel Canizales-Quinteros; Gabriel Bedoya; Carla Gallo; Giovanni Poletti; Francisco Rothhammer; Maria Catira Bortolini; Rolando Gonzalez-Jose; Changqing Zeng; Shuhua Xu; Li Jin; André G Uitterlinden; M Arfan Ikram; Cornelia M van Duijn; Tamar Nijsten; Susan Walsh; Wojciech Branicki; Sijia Wang; Andrés Ruiz-Linares; Timothy D Spector; Nicholas G Martin; Sarah E Medland; Manfred Kayser
Journal:  Hum Mol Genet       Date:  2018-02-01       Impact factor: 6.150

2.  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
  2 in total

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