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Xu, C. Junctional Epidermolysis Bullosa. Encyclopedia. Available online: https://encyclopedia.pub/entry/4183 (accessed on 28 September 2026).
Xu C. Junctional Epidermolysis Bullosa. Encyclopedia. Available at: https://encyclopedia.pub/entry/4183. Accessed September 28, 2026.
Xu, Camila. "Junctional Epidermolysis Bullosa" Encyclopedia, https://encyclopedia.pub/entry/4183 (accessed September 28, 2026).
Xu, C. (2020, December 23). Junctional Epidermolysis Bullosa. In Encyclopedia. https://encyclopedia.pub/entry/4183
Xu, Camila. "Junctional Epidermolysis Bullosa." Encyclopedia. Web. 23 December, 2020.
Junctional Epidermolysis Bullosa
Edit

Junctional epidermolysis bullosa (JEB) is a major form of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.

genetic conditions

References

  1. Castori M, Floriddia G, De Luca N, Pascucci M, Ghirri P, Boccaletti V, ElHachem M, Zambruno G, Castiglia D. Herlitz junctional epidermolysis bullosa:laminin-5 mutational profile and carrier frequency in the Italian population. Br J Dermatol. 2008 Jan;158(1):38-44.
  2. Condrat I, He Y, Cosgarea R, Has C. Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine. Front Med(Lausanne). 2019 Jan 29;5:363. doi: 10.3389/fmed.2018.00363.
  3. Fine JD, Eady RA, Bauer EA, Bauer JW, Bruckner-Tuderman L, Heagerty A, HintnerH, Hovnanian A, Jonkman MF, Leigh I, McGrath JA, Mellerio JE, Murrell DF, ShimizuH, Uitto J, Vahlquist A, Woodley D, Zambruno G. The classification of inheritedepidermolysis bullosa (EB): Report of the Third International Consensus Meetingon Diagnosis and Classification of EB. J Am Acad Dermatol. 2008 Jun;58(6):931-50.doi: 10.1016/j.jaad.2008.02.004.
  4. Has C, Liu L, Bolling MC, Charlesworth AV, El Hachem M, Escámez MJ, Fuentes I,Büchel S, Hiremagalore R, Pohla-Gubo G, van den Akker PC, Wertheim-Tysarowska K, Zambruno G. Clinical practice guidelines for laboratory diagnosis ofepidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):574-592. doi:10.1111/bjd.18128.
  5. Kelly-Mancuso G, Kopelan B, Azizkhan RG, Lucky AW. Junctional epidermolysisbullosa incidence and survival: 5-year experience of the Dystrophic EpidermolysisBullosa Research Association of America (DebRA) nurse educator, 2007 to 2011.Pediatr Dermatol. 2014 Mar-Apr;31(2):159-62. doi: 10.1111/pde.12157.
  6. Mühle C, Jiang QJ, Charlesworth A, Bruckner-Tuderman L, Meneguzzi G, SchneiderH. Novel and recurrent mutations in the laminin-5 genes causing lethal junctionalepidermolysis bullosa: molecular basis and clinical course of Herlitz disease.Hum Genet. 2005 Jan;116(1-2):33-42.
  7. Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, KanaanM, Meneguzzi G, Richard G, Pfendner E, Uitto J, Pulkkinen L, Sprecher E.Junctional epidermolysis bullosa in the Middle East: clinical and genetic studiesin a series of consanguineous families. J Am Acad Dermatol. 2002 Apr;46(4):510-6.
  8. Pfendner EG, Bruckner A, Conget P, Mellerio J, Palisson F, Lucky AW. Basicscience of epidermolysis bullosa and diagnostic and molecular characterization:Proceedings of the IInd International Symposium on Epidermolysis Bullosa,Santiago, Chile, 2005. Int J Dermatol. 2007 Aug;46(8):781-94.
  9. Pfendner EG, Lucky AW. Junctional Epidermolysis Bullosa. 2008 Feb 22 [updated 2018 Dec 20]. 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/NBK1125/
  10. Pulkkinen L, Uitto J. Mutation analysis and molecular genetics ofepidermolysis bullosa. Matrix Biol. 1999 Feb;18(1):29-42. Review.
  11. Varki R, Sadowski S, Pfendner E, Uitto J. Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet. 2006Aug;43(8):641-52.
  12. Yoshida K, Sadamoto M, Sasaki T, Kubo A, Ishiko A. Junctional epidermolysisbullosa without pyloric atresia due to a homozygous missense mutation in ITGB4. JDermatol. 2019 Feb;46(2):e61-e63. doi: 10.1111/1346-8138.14591.
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