|
1
|
Hon KL, Chu S and Leung AKC: Epidermolysis
bullosa: Pediatric perspectives. Curr Pediatr Rev. 18:182–190.
2022.PubMed/NCBI View Article : Google Scholar
|
|
2
|
Jo-David and dermatology FJJ. Epidemiology
of inherited epidermolysis bullosa based on incidence and
prevalence estimates from the national epidermolysis bullosa
registry. JAMA Dermatol. 152:1231–1238. 2016.PubMed/NCBI View Article : Google Scholar
|
|
3
|
Pânzaru M-C, Caba L, Florea L, Braha EE
and Gorduza EV: Epidermolysis bullosa-a different genetic approach
in correlation with genetic heterogeneity. Diagnostics (Basel).
12(1325)2022.PubMed/NCBI View Article : Google Scholar
|
|
4
|
Has C, Bauer JW, Bodemer C, Bolling MC,
Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A,
Marinkovich MP, et al: Consensus reclassification of inherited
epidermolysis bullosa and other disorders with skin fragility. Br J
Dermatol. 183:614–627. 2020.PubMed/NCBI View Article : Google Scholar
|
|
5
|
Fine JD, Johnson LB, Weiner M, Li KP and
Suchindran C: Epidermolysis bullosa and the risk of
life-threatening cancers: The national EB registry experience,
1986-2006. J Am Acad Dermatol. 60:203–211. 2009.PubMed/NCBI View Article : Google Scholar
|
|
6
|
Bardhan A, Bruckner-Tuderman L, Chapple
ILC, Fine JD, Harper N, Has C, Magin TM, Marinkovich MP, Marshall
JF, McGrath JA, et al: Epidermolysis bullosa. Nat Rev Dis Primers.
6(78)2020.PubMed/NCBI View Article : Google Scholar
|
|
7
|
Mariath L, Santin JT, Schuler-Faccini L
and Kiszewski AE: Inherited epidermolysis bullosa: Update on the
clinical and genetic aspects. An Bras Dermatol. 95:551–569.
2020.PubMed/NCBI View Article : Google Scholar
|
|
8
|
Lucky AW, Dagaonkar N, Lammers K, Husami A
and Zhang K: A comprehensive next-generation sequencing assay for
the diagnosis of epidermolysis bullosa. Pediatr Dermatol.
35:188–197. 2018.PubMed/NCBI View Article : Google Scholar
|
|
9
|
Wang W, Qin W, Ge H, Kong X, Xie C, Tang Y
and Li M: Clinical and molecular characteristics of thirty NF1
variants in Chinese patients with neurofibromatosis type 1. Mol
Biol Rep. 46:4349–4359. 2019.PubMed/NCBI View Article : Google Scholar
|
|
10
|
Richards S, Aziz N, Bale S, Bick D, Das S,
Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al:
Standards and guidelines for the interpretation of sequence
variants: A joint consensus recommendation of the American college
of medical genetics and genomics and the association for molecular
pathology. Genet Med. 17:405–424. 2015.PubMed/NCBI View Article : Google Scholar
|
|
11
|
Whittock NV, Eady RA and Mcgrath JA:
Genomic organization and amplification of the human epidermal type
II keratin genes K1 and K5. Biochem Biophys Res Commun.
274:149–152. 2000.PubMed/NCBI View Article : Google Scholar
|
|
12
|
Hanukoglu I and Fuchs EJC: The cDNA
sequence of a type II cytoskeletal keratin reveals constant and
variable structural domains among keratins. Cell. 33:915–924.
1983.PubMed/NCBI View Article : Google Scholar
|
|
13
|
Lee CH, Kim MS, Chung BM, Leahy DJ and
Coulombe PA: Structural basis for heteromeric assembly and
perinuclear organization of keratin filaments. Nat Struct Mol Biol.
19:707–715. 2012.PubMed/NCBI View Article : Google Scholar
|
|
14
|
Sørensen CB, Ladekjaer-Mikkelsen AS,
Andresen BS, Brandrup F, Veien NK, Buus SK, Anton-Lamprecht I,
Kruse TA, Jensen PK, Eiberg H, et al: Identification of novel and
known mutations in the genes for keratin 5 and 14 in Danish
patients with epidermolysis bullosa simplex: Correlation between
genotype and phenotype. J Invest Dermatol. 112:184–190.
1999.PubMed/NCBI View Article : Google Scholar
|
|
15
|
Banerjee S, Wu Q, Yu P, Qi M and Li C: In
silico analysis of all point mutations on the 2B domain of K5/K14
causing epidermolysis bullosa simplex: A genotype-phenotype
correlation. Mol Biosyst. 10:2567–2577. 2014.PubMed/NCBI View Article : Google Scholar
|
|
16
|
Zhang J, Yan M, Liang J, Li M and Yao Z: A
novel KRT5 mutation associated with generalized severe
epidermolysis bullosa simplex in a 2-year-old Chinese boy. Exp Ther
Med. 12:2823–2826. 2016.PubMed/NCBI View Article : Google Scholar
|
|
17
|
Schuilenga-Hut PH, Vlies Pv, Jonkman MF,
Waanders E, Buys CH and Scheffer H: Mutation analysis of the entire
keratin 5 and 14 genes in patients with epidermolysis bullosa
simplex and identification of novel mutations. Hum Mutat. 21:447.
2003.PubMed/NCBI View Article : Google Scholar
|
|
18
|
Stawczyk-Macieja M, Wertheim-Tysarowska K,
Jakubowski R, Szczerkowska-Dobosz A, Krygier M, Wilkowska A,
Sawicka J, Nowak W, Bal J and Nowicki R: A novel de novo mutation
p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis
bullosa simplex. Exp Dermatol. 28:1131–1134. 2018.PubMed/NCBI View Article : Google Scholar
|
|
19
|
Cohn HI and Teng JM: Advancement in
management of epidermolysis bullosa. Curr Opin Pediatr. 28:507–516.
2016.PubMed/NCBI View Article : Google Scholar
|
|
20
|
Prodinger C, Reichelt J, Bauer JW and
Laimer M: Epidermolysis bullosa: Advances in research and
treatment. Exp Dermatol. 28:1176–1189. 2019.PubMed/NCBI View Article : Google Scholar
|
