A severe familial phenotype of Ichthyosis Curth-Macklin caused by a novel mutation in theKRT1gene
Author:
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2133.2012.11181.x/fullpdf
Reference7 articles.
1. Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix;Sprecher;J Invest Dermatol,2001
2. The molecular basis of human keratin disorders;Arin;Hum Genet,2009
3. A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type;Richardson;J Invest Dermatol,2006
4. Ichthyosis hystrix, Curth-Macklin type: a new sporadic case with a novel mutation of keratin 1;Kubo;Arch Dermatol,2011
5. Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5;Sprecher;J Invest Dermatol,2003
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3. A novel frameshift truncation mutation in the V2 tail domain of KRT1 causes mild ichthyosis hystrix of Curth–Macklin;Clinical and Experimental Dermatology;2020-04-10
4. Arginine‐ but not alanine‐rich carboxy‐termini trigger nuclear translocation of mutant keratin 10 in ichthyosis with confetti;Journal of Cellular and Molecular Medicine;2019-10-22
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