Literature DB >> 26075358

Keratotic follicular plugs with calcifications in Conradi-Hünermann-Happle syndrome: histological, biochemical and genetic testing correlation.

S Leclerc-Mercier1,2, F Dufernez3, S Fraitag2, J Coulombe1, A Dompmartin4, M Barreau4, D Bozon5, A Lamazière6,7, J-P Bonnefont8, E Khalifa8, C Bodemer1,9, S Hadj-Rabia1,9.   

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Year:  2015        PMID： 26075358     DOI： 10.1111/bjd.13948

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN： 0007-0963            Impact factor:   9.302


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  1 in total

1.  New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Authors:  Mathilde Pacault; Marie Vincent; Thomas Besnard; Caroline Kannengiesser; Claire Bénéteau; Sébastien Barbarot; Xénia Latypova; Khaldia Belabbas; Antonin Lamazière; Norbert Winer; Madeleine Joubert; Stéphane Bézieau; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Stéphanie Leclerc-Mercier; Smail Hadj-Rabia; Fabienne Dufernez
Journal:  Eur J Hum Genet       Date:  2018-08-22       Impact factor: 4.246
  1 in total

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