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103 results

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Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, Shadmehri AA, Giunta C, Kraenzlin M, Syx D, Malfait F, Has C, Lwin SM, Karamzadeh R, Liu L, Guy A, Hamid M, Kariminejad A, Zeinali S, McGrath JA, Uitto J. Vahidnezhad H, et al. Among authors: youssefian l. Matrix Biol. 2019 Aug;81:91-106. doi: 10.1016/j.matbio.2018.11.006. Epub 2018 Nov 18. Matrix Biol. 2019. PMID: 30463024 Free article.
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families.
Youssefian L, Vahidnezhad H, Barzegar M, Li Q, Sotoudeh S, Yazdanfar A, Ehsani AH, Kajbafzadeh AM, Mozafari N, Ebrahimi Daryani N, Agha-Hosseini F, Zeinali S, Uitto J. Youssefian L, et al. J Invest Dermatol. 2015 May;135(5):1447-1450. doi: 10.1038/jid.2015.9. Epub 2015 Jan 19. J Invest Dermatol. 2015. PMID: 25599393 Free article. No abstract available.
KRT5 and KRT14 Mutations in Epidermolysis Bullosa Simplex with Phenotypic Heterogeneity, and Evidence of Semidominant Inheritance in a Multiplex Family.
Vahidnezhad H, Youssefian L, Saeidian AH, Mozafari N, Barzegar M, Sotoudeh S, Daneshpazhooh M, Isaian A, Zeinali S, Uitto J. Vahidnezhad H, et al. Among authors: youssefian l. J Invest Dermatol. 2016 Sep;136(9):1897-1901. doi: 10.1016/j.jid.2016.05.106. Epub 2016 Jun 7. J Invest Dermatol. 2016. PMID: 27283507 Free article. No abstract available.
103 results