Bullous Congenital Ichthyosiform Erythroderma: A Sporadic Case Produced by a NewKRT10Gene Mutation
Author:
Publisher
Wiley
Subject
Dermatology,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1525-1470.2009.00969.x/fullpdf
Reference12 articles.
1. The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes;Cheng;Cell,1992
2. Epidermolytic hyperkeratosis: a keratin 1 or 10 mutational event;Lacz;Int J Dermatol,2005
3. Clinical heterogenity in epidermolytic hyperkeratosis;DiGiovanna;Arch Dermatol,1994
4. Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis;Chipev;Am J Hum Genet,1994
5. Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity;Syder;J Clin Invest,1994
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3. A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis;Clinical Case Reports;2020-09-18
4. Gene Editing–Mediated Disruption of Epidermolytic Ichthyosis–Associated KRT10 Alleles Restores Filament Stability in Keratinocytes;Journal of Investigative Dermatology;2019-08
5. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin;PLOS ONE;2018-04-24
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