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References

1. Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, MossC, Martinéz AE, Mellerio JE, McGrath JA. Identical glycine substitution mutationsin type VII collagen may underlie both dominant and recessive forms of dystrophicepidermolysis bullosa. Acta Derm Venereol. 2011 May;91(3):262-6. doi:10.2340/00015555-1053.
2. Bruckner-Tuderman L, Höpfner B, Hammami-Hauasli N. Biology of anchoringfibrils: lessons from dystrophic epidermolysis bullosa. Matrix Biol. 1999Feb;18(1):43-54. Review.
3. Chen Z, Bu W, Feng S, Wang H. Bart's syndrome in a family affected threeconsecutive generations with mutation c.6007G>A in COL7A1. J Dermatol. 2018Aug;45(8):1000-1002. doi: 10.1111/1346-8138.14352.
4. Dang N, Klingberg S, Marr P, Murrell DF. Review of collagen VII sequencevariants found in Australasian patients with dystrophic epidermolysis bullosareveals nine novel COL7A1 variants. J Dermatol Sci. 2007 Jun;46(3):169-78.
5. Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M,Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M. Genotype-phenotypecorrelation in italian patients with dystrophic epidermolysis bullosa. J InvestDermatol. 2002 Dec;119(6):1456-62.
6. Han YM, Lee N, Byun SY, Cheon SJ, Ko HC. Bart's Syndrome with Novel FrameshiftMutations in the COL7A1 Gene. Fetal Pediatr Pathol. 2019 Feb;38(1):72-79. doi:10.1080/15513815.2018.1543370.
7. Järvikallio A, Pulkkinen L, Uitto J. Molecular basis of dystrophicepidermolysis bullosa: mutations in the type VII collagen gene (COL7A1). HumMutat. 1997;10(5):338-47.
8. Kern JS, Kohlhase J, Bruckner-Tuderman L, Has C. Expanding the COL7A1 mutationdatabase: novel and recurrent mutations and unusual genotype-phenotypeconstellations in 41 patients with dystrophic epidermolysis bullosa. J InvestDermatol. 2006 May;126(5):1006-12.
9. Ortiz-Urda S, Garcia J, Green CL, Chen L, Lin Q, Veitch DP, Sakai LY, Lee H,Marinkovich MP, Khavari PA. Type VII collagen is required for Ras-driven humanepidermal tumorigenesis. Science. 2005 Mar 18;307(5716):1773-6.
10. Pfendner EG, Lucky AW. Dystrophic Epidermolysis Bullosa. 2006 Aug 21 [updated 2018 Sep 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1304/
11. Pourreyron C, Cox G, Mao X, Volz A, Baksh N, Wong T, Fassihi H, Arita K,O'Toole EA, Ocampo-Candiani J, Chen M, Hart IR, Bruckner-Tuderman L, Salas-AlanisJC, McGrath JA, Leigh IM, South AP. Patients with recessive dystrophicepidermolysis bullosa develop squamous-cell carcinoma regardless of type VIIcollagen expression. J Invest Dermatol. 2007 Oct;127(10):2438-44.
12. Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H. Genetic studies of 20 Japanese families of dystrophicepidermolysis bullosa. J Hum Genet. 2005;50(10):543-546. doi:10.1007/s10038-005-0290-4.2006;51(9):839. J Hum Genet. 2006 Sep;51(9):839.
13. Varki R, Sadowski S, Uitto J, Pfendner E. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophicsubtypes. J Med Genet. 2007 Mar;44(3):181-92.