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Journal Abstract Search

159 related items for PubMed ID: 32588446

  • 1. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.
    Murase Y, Tanahashi K, Takeichi T, Sugiura K, Aiyama A, Nishida K, Mitsuma T, Akiyama M.
    J Dermatol; 2020 Sep; 47(9):e336-e339. PubMed ID: 32588446
    [No Abstract] [Full Text] [Related]

  • 2. Ulnar deviation with massive palmar keratoderma in epidermolytic ichthyosis.
    Hamada T, Ishii N, Koga H, Teye K, Nagata S, Matsuo A, Okada T, Hashimoto T, Nakama T.
    J Dermatol; 2021 Sep; 48(9):e456-e457. PubMed ID: 34096080
    [No Abstract] [Full Text] [Related]

  • 3. Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma.
    Austin Smith W, Cope A, Fernandez M, Parekh P.
    Dermatol Online J; 2016 Apr 18; 22(4):. PubMed ID: 27617465
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  • 4. Novel and recurrent mutations in keratin 1 cause epidermolytic ichthyosis and palmoplantar keratoderma.
    Smith FJD, Kreuser-Genis IM, Jury CS, Wilson NJ, Terron-Kwiatowski A, Zamiri M.
    Clin Exp Dermatol; 2019 Jul 18; 44(5):528-534. PubMed ID: 30288772
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  • 5. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct 18; 36(10):1857-1862. PubMed ID: 35490383
    [Abstract] [Full Text] [Related]

  • 6. A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
    Calì F, Failla P, Vinci M, Siragusa M, Schepis C.
    Dermatol Online J; 2020 Jul 15; 26(7):. PubMed ID: 32898404
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  • 7. A p.478I>T KRT1 mutation in a case of annular epidermolytic ichthyosis.
    Zaki TD, Yoo KY, Kassardjian M, Choate KA.
    Pediatr Dermatol; 2018 Nov 15; 35(6):e414-e415. PubMed ID: 30152556
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  • 8. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
    Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M.
    Exp Dermatol; 2015 Nov 15; 24(11):883-5. PubMed ID: 26120802
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  • 12. A novel mutation in the L12 domain of keratin 1 is associated with mild epidermolytic ichthyosis.
    Bolling MC, Bladergroen RS, van Steensel MA, Willemsen M, Jonkman MF, van Geel M.
    Br J Dermatol; 2010 Apr 15; 162(4):875-9. PubMed ID: 20500210
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  • 13. Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis.
    Khalil S, Daou L, Hayashi R, Abbas O, Nemer G, Saadeh D, Shimomura Y, Kurban M.
    J Eur Acad Dermatol Venereol; 2017 Mar 15; 31(3):e142-e144. PubMed ID: 27520397
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  • 18. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
    Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE.
    J Invest Dermatol; 2003 Nov 15; 121(5):1013-20. PubMed ID: 14708600
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  • 20. Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
    Liang B, Yuan T, Zhou Y, Ding Y, Tang L, Wang F, Wang P, Li H, Zhang Y, Zhu M, Ji Y, Hong X, Zhang X, Zhu Q.
    Eur J Dermatol; 2020 Jun 01; 30(3):294-299. PubMed ID: 32666929
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