Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.

Hotz, Alrun; Oji, Vinzenz; Bourrat, Emmanuelle; Jonca, Nathalie; Mazereeuw-Hautier, Juliette; Betz, Regina C; Blume-Peytavi, Ulrike; Stieler, Karola; Morice-Picard, Fanny; Schönbuchner, Ines; Markus, Susanne; Schlipf, Nina; Fischer, Judith

Hotz, Alrun; Oji, Vinzenz; Bourrat, Emmanuelle; Jonca, Nathalie; Mazereeuw-Hautier, Juliette; Betz, Regina C; Blume-Peytavi, Ulrike; Stieler, Karola; Morice-Picard, Fanny; Schönbuchner, Ines; Markus, Susanne; Schlipf, Nina; Fischer, Judith.

Affiliation

Hotz A; Institute of Human Genetics, , University Medical Center Freiburg,, Freiburg, Germany.

Acta Derm Venereol ; 96(4): 473-8, 2016 May.

Article in En | MEDLINE | ID: mdl-26581228

Subject(s)

Hyperkeratosis, Epidermolytic/genetics; Ichthyosis, Lamellar/genetics; Keratin-10/genetics; Keratin-1/genetics; Keratin-2/genetics; Mutation; Adolescent; Adult; Aged; Child; Child, Preschool; DNA Mutational Analysis; Female; Genetic Association Studies; Genetic Predisposition to Disease; Heredity; Humans; Hyperkeratosis, Epidermolytic/diagnosis; Ichthyosis, Lamellar/diagnosis; Infant; Infant, Newborn; Male; Middle Aged; Pedigree; Phenotype; Risk Factors; Severity of Illness Index; Young Adult

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosis, Lamellar / Hyperkeratosis, Epidermolytic / Keratin-10 / Keratin-1 / Keratin-2 / Mutation Type of study: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies Limits: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Language: En Journal: Acta Derm Venereol Year: 2016 Type: Article Affiliation country: Germany

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