Literature DB >> 23293949

Case of hypohidrotic ectodermal dysplasia caused by a large deletion mutation in the EDA gene.

Ryota Hayashi, Muhammad Farooq, Hiroki Fujikawa, Atsushi Fujimoto, Tsuyoshi Hashimoto, Masaaki Ito, Yutaka Shimomura.   

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Year:  2013        PMID： 23293949     DOI： 10.1111/1346-8138.12077

Source DB:  PubMed          Journal:  J Dermatol        ISSN： 0385-2407            Impact factor:   4.005


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  1 in total

1.  Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements.

Authors:  Sigrun Wohlfart; Johanna Hammersen; Holm Schneider
Journal:  J Hum Genet       Date:  2016-06-16       Impact factor: 3.172
  1 in total

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