Phenotype and genotype features of Vietnamese children with pachyonychia congenita
Tài liệu tham khảo
Samuelov, 2020, Revisiting pachyonychia congenita: a case-cohort study of 815 patients, Br J Dermatol, 182, 738, 10.1111/bjd.18794
Wu, 2021, Distinctions in the management, patient impact, and clinical profiles of pachyonychia congenita subtypes, Skin Appendage Disord, 7, 194, 10.1159/000513340
Wilson, 2014, The molecular genetic analysis of the expanding pachyonychia congenita case collection, Br J Dermatol, 171, 343, 10.1111/bjd.12958
McLean, 2011, The phenotypic and molecular genetic features of pachyonychia congenita, J Invest Dermatol, 131, 1015, 10.1038/jid.2011.59
Wilson, 2011, A large mutational study in pachyonychia congenita, J Invest Dermatol, 131, 1018, 10.1038/jid.2011.20
Eliason, 2012, A Review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita, J Am Acad Dermatol, 67, 680, 10.1016/j.jaad.2011.12.009
Chu, 2021, Pachyonychia Congenita Type PC-K6a: the first report in the Vietnamese population, Biomed Res Ther, 8, 4434, 10.15419/bmrat.v8i6.681
Wu, 2021, Distinctions in the management, patient impact, and clinical profiles of pachyonychia congenita subtypes, Skin Appendage Disord, 7, 194, 10.1159/000513340
Chiriac, 2017, First report of pachyonychia congenita Type PC-K6a in the Romanian population, Maedica (Bucur), 12, 123
Smith FJD
Smith, 2017, Keratin 6b variant p.Gly499Ser reported in delayed-onset pachyonychia congenita is a non-pathogenic polymorphism, J Dermatol, 44, e312, 10.1111/1346-8138.14001
Leachman, 2005, Clinical and pathological features of pachyonychia congenita, J Invest Dermatol Symp Proc, 10, 3, 10.1111/j.1087-0024.2005.10202.x
Wee, 2016, Focal PPK secondary to a novel KRT6C mutation (Pachyonychia congenita-K6c), J Eur Acad Dermatol Venereol, 30, 1415, 10.1111/jdv.13259
Duverger, 2018, Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay, PLoS Genet, 14, 10.1371/journal.pgen.1007168
Shah, 2014, Pachyonychia congenita in pediatric patients: natural history, features, and impact, JAMA Dermatol, 150, 146, 10.1001/jamadermatol.2013.6448
Vu, 2018, Acne fulminans in a Vietnamese boy successfully treated with prednisolone and ibuprofen: a case report, Biomed Res Ther, 5, 2708, 10.15419/bmrat.v5i9.483
Vu, 2014, Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia, BMC Pediatr, 14, 129, 10.1186/1471-2431-14-129
Tran, 2018, Novel HAX1 gene mutation in a Vietnamese boy with severe congenital neutropenia, Case Rep Pediatr, 2018, 2798621
Vu, 2015, Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report, BMC Hematol, 15, 2, 10.1186/s12878-015-0020-x
Forrest, 2016, Pachyonychia congenita: a spectrum of KRT6a mutations in Australian patients, Pediatr Dermatol, 33, 337, 10.1111/pde.12841
Zieman, 2020, Pathophysiology of pachyonychia congenita-associated palmoplantar keratoderma: new insight into skin epithelial homeostasis and avenues for treatment, Br J Dermatol, 182, 564, 10.1111/bjd.18033
Gruber, 2012, An appraisal of oral retinoids in the treatment of pachyonychia congenita, J Am Acad Dermatol, 66, e193, 10.1016/j.jaad.2011.02.003
Goldberg, 2014, Best treatment practices for pachyonychia congenita, J Eur Acad Dermatol Venereol, 28, 279, 10.1111/jdv.12098
Wallis, 2016, Can skin disease cause neuropathic pain? A study in pachyonychia congenita, Clin Exp Dermatol, 41, 26, 10.1111/ced.12723
Abbas, 2015, PCQoL: a quality of life assessment measure for pachyonychia congenita, J Cutan Med Surg, 19, 57, 10.2310/7750.2014.14017
Milstone, 2015, Treatment of pachyonychia congenita, J Investig Dermatol Symp Proc, 10, 18, 10.1111/j.1087-0024.2005.10203.x