Literature DB >> 25266272

A novel INDEL mutation in the EDA gene resulting in a distinct X- linked hypohidrotic ectodermal dysplasia phenotype in an Italian family.

M Callea1, P Nieminen2, C E Willoughby3, G Clarich1, I Yavuz4, A Vinciguerra1, M Di Stazio5, S Giglio6,7, I Sani7, M Maglione5, S Pensiero1, G Tadini8,9, E Bellacchio10.   

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Year:  2014        PMID： 25266272     DOI： 10.1111/jdv.12747

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


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  1 in total

1.  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
  1 in total

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