Extremely severe palmoplantar hyperkeratosis in a generalized epidermolytic hyperkeratosis patient with a keratin 1 gene mutation
Author:
Publisher
Elsevier BV
Subject
Dermatology
Reference6 articles.
1. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis;Tsubota;J Invest Dermatol,2007
2. Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis;Lee;J Invest Dermatol,2002
3. Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly;Müller;Hum Mutat,2006
4. A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads;Lu;Am J Med Genet A,2003
5. Elucidating the early stages of keratin filament assembly;Coulombe;J Cell Biol,1990
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1. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis;PLOS ONE;2022-10-17
2. Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus;International Journal of Molecular Sciences;2021-06-27
3. Ulnar deviation with massive palmar keratoderma in epidermolytic ichthyosis;The Journal of Dermatology;2021-06-06
4. Role of the keratin 1 and keratin 10 tails in the pathogenesis of ichthyosis hystrix of Curth Macklin;PLOS ONE;2018-04-24
5. Weitere Verhornungsstörungen;Braun-Falco’s Dermatologie, Venerologie und Allergologie;2018
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