The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10 | Zendy

I. Spoerri | Zendy; Michela Brena | Zendy; Julie De Mesmaeker | Zendy; Nina Schlipf | Zendy; Judith Fischer | Zendy; Gianluca Tadini | Zendy; Peter Itin | Zendy; Bettina Burger | Zendy

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The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10

Author(s) -

I. Spoerri,

Michela Brena,

Julie De Mesmaeker,

Nina Schlipf,

Judith Fischer,

Gianluca Tadini,

Peter Itin,

Bettina Burger

Publication year - 2014

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2014.2526

Subject(s) - medicine , genodermatosis , locus (genetics) , genetics , exon , dermatology , frameshift mutation , genetic variation , population , phenotype , pathology , biology , gene , environmental health

Ichthyosis with confetti (IWC) is a genodermatosis caused by dominant negative mutations in the gene encoding keratin 10 (KRT10). We investigated clinical and genetic details of a substantial number of patients with IWC in order to define major and minor criteria for diagnosis of this rare disorder.

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