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Journal Abstract Search

200 related items for PubMed ID: 28794556

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  • 2. First Report of Pachyonychia Congenita Type PC-K6a in the Romanian Population.
    Chiriac A, Rusu C, Murgu A, Chiriac AE, Wilson NJ, Smith FJD.
    Maedica (Bucur); 2017 Jun; 12(2):123-126. PubMed ID: 29090033
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  • 4. A KRT6A and a Novel KRT16 Gene Mutations in Chinese Patients with Pachyonychia Congenita.
    Gong L, Guo S, Wang D, Wang T, Ren X, Yuan Y, Cui H.
    Int J Gen Med; 2021 Jun; 14():903-907. PubMed ID: 33762842
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  • 5. The molecular genetic analysis of the expanding pachyonychia congenita case collection.
    Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, Schwartz ME, McLean WH, Sprecher E, Smith FJ.
    Br J Dermatol; 2014 Aug; 171(2):343-55. PubMed ID: 24611874
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  • 7. Pachyonychia Congenita: Clinical Features and Future Treatments.
    Mccarthy RL, De Brito M, O'toole E.
    Keio J Med; 2023 Sep 28. PubMed ID: 37766547
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  • 9. Generalized bullae in a young girl with KRT6A-related pachyonychia congenita.
    Liu J, Zhong W, Yu B, Lin Z, Zheng Y, Hu X.
    Pediatr Dermatol; 2020 Sep 28; 37(5):974-976. PubMed ID: 32662074
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  • 10. Pachyonychia congenita patients with mutations in KRT6A have more extensive disease compared with patients who have mutations in KRT16.
    Spaunhurst KM, Hogendorf AM, Smith FJ, Lingala B, Schwartz ME, Cywinska-Bernas A, Zeman KJ, Tang JY.
    Br J Dermatol; 2012 Apr 28; 166(4):875-8. PubMed ID: 22098151
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  • 11. Symptomatic mucosal involvement in pachyonychia congenita: challenges in infants and young children.
    Goldberg I, Mashiah J, Kutz A, Derowe A, Warshauer E, Schwartz ME, Smith F, Sprecher E, Hansen CD.
    Br J Dermatol; 2020 Mar 28; 182(3):708-713. PubMed ID: 31777952
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  • 13.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Smith FJD, Hansen CD, Hull PR, Kaspar RL, McLean WHI, O’Toole E, Sprecher E.
    ; 1993 Mar 28. PubMed ID: 20301457
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  • 18. Pachyonychia Congenita: A Spectrum of KRT6a Mutations in Australian Patients.
    Forrest CE, Casey G, Mordaunt DA, Thompson EM, Gordon L.
    Pediatr Dermatol; 2016 May 28; 33(3):337-42. PubMed ID: 27041546
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  • 19. Molecular epidemiology of pachyonychia congenita in the Israeli population.
    Pavlovsky M, Peled A, Samuelov L, Malki L, Malovitski K, Assaf S, Mohamad J, Meijers O, Eskin-Schwartz M, Sarig O, Sprecher E.
    Clin Exp Dermatol; 2021 Jun 28; 46(4):663-668. PubMed ID: 33190296
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  • 20. A novel heterozygous frameshift mutation in the KRT6A gene responsible for an uncommon phenotype of pachyonychia congenita: One case report and review of literature.
    Liang J, Li R, Liu C, Cai Y, Liu Y, Chen P, Zeng K, Li C.
    Heliyon; 2024 Mar 15; 10(5):e27195. PubMed ID: 38468954
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