Literature DB >> 25210951

Phenotypic expansion in ichthyosis with confetti.

Keith A Choate1, Leonard M Milstone2.   

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Year:  2015        PMID： 25210951      PMCID： PMC6319358          DOI： 10.1001/jamadermatol.2014.2525

Source DB:  PubMed          Journal:  JAMA Dermatol        ISSN： 2168-6068            Impact factor:   10.282


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  5 in total

Review 1.  Revertant mosaicism in genodermatoses.

Authors:  Young H Lim; Jonathan M Fisher; Keith A Choate
Journal:  Cell Mol Life Sci       Date:  2017-02-06       Impact factor: 9.261

2.  Genetic Reversion via Mitotic Recombination in Ichthyosis with Confetti due to a KRT10 Polyalanine Frameshift Mutation.

Authors:  Young H Lim; Jingyao Qiu; Corey Saraceni; Barbara A Burrall; Keith A Choate
Journal:  J Invest Dermatol       Date:  2016-05-18       Impact factor: 8.551

3.  Recurrent KRT10 Variant in Ichthyosis with Confetti.

Authors:  Takuya Takeichi; Yasushi Suga; Takashi Mizuno; Yusuke Okuno; Daisuke Ichikawa; Michihiro Kono; John Y W Lee; John A McGrath; Masashi Akiyama
Journal:  Acta Derm Venereol       Date:  2020-07-02       Impact factor: 3.875

4.  Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.

Authors:  Aldona Pietrzak; Bartlomiej Wawrzycki; Matthias Schmuth; Katarzyna Wertheim-Tysarowska
Journal:  Orphanet J Rare Dis       Date:  2022-02-16       Impact factor: 4.123

Review 5.  Ichthyosis with confetti: clinics, molecular genetics and management.

Authors:  Liliana Guerra; Andrea Diociaiuti; May El Hachem; Daniele Castiglia; Giovanna Zambruno
Journal:  Orphanet J Rare Dis       Date:  2015-09-17       Impact factor: 4.123
  5 in total

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