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
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
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
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Predictive phenotyping of inherited ichthyosis by next-generation DNA sequencing.
Saito R et al.
The British Journal of Dermatology, 2017
Ichthyosis with confetti: clinics, molecular genetics and management.
Guerra L et al.
Orphanet Journal of Rare Diseases, 2015
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