Associated Papers
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis.
Yang Z et al.
Pediatric Investigation, 2023
37736367 (PubMed )
Supplement: PED4-7-168-s001.pdf
The Genomic and Phenotypic Landscape of Ichthyosis: An Analysis of 1000 Kindreds.
Sun Q et al.
Jama Dermatology, 2022
Discovery of heterozygous KRT10 alterations in MAUIE cases underlines the importance of regular skin cancer screening in ichthyosis with confetti.
Burger B et al.
The British Journal of Dermatology, 2020
First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.
Diociaiuti A et al.
International Journal of Molecular Sciences, 2020
Arginine- but not alanine-rich carboxy-termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti.
Renz P et al.
Journal of Cellular and Molecular Medicine, 2019
Inherited ichthyoses: molecular causes of the disease in Czech patients.
Borská R et al.
Orphanet Journal of Rare Diseases, 2019
Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Kalinska-Bienias A et al.
American Journal of Medical Genetics. Part A, 2017
Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.
Saito R et al.
The British Journal of Dermatology, 2017
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis.
Hotz A et al.
Acta Dermato-venereologica, 2016
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L et al.
Orphanet Journal of Rare Diseases, 2015
Early immunopathological diagnosis of ichthyosis with confetti in two sporadic cases with new mutations in keratin 10.
Diociaiuti A et al.
Acta Dermato-venereologica, 2014
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