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Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa.
Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Sotoudeh S, Jazayeri A, Guy A, Lovell PA, Liu L, Kariminejad A, McGrath JA, Zeinali S, Uitto J. Vahidnezhad H, et al. Among authors: jazayeri a. Hum Mutat. 2018 Oct;39(10):1349-1354. doi: 10.1002/humu.23592. Epub 2018 Aug 3. Hum Mutat. 2018. PMID: 30016581
A CIB1 Splice-Site Founder Mutation in Families with Typical Epidermodysplasia Verruciformis.
Vahidnezhad H, Youssefian L, Saeidian AH, Mansoori B, Jazayeri A, Azizpour A, Hesari KK, Yousefi M, Zeinali S, Jouanguy E, Casanova JL, Uitto J. Vahidnezhad H, et al. Among authors: jazayeri a. J Invest Dermatol. 2019 May;139(5):1195-1198. doi: 10.1016/j.jid.2018.11.011. Epub 2018 Nov 29. J Invest Dermatol. 2019. PMID: 30503243 Free article. Review. No abstract available.
Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J. Youssefian L, et al. Among authors: jazayeri a. Clin Infect Dis. 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942. Clin Infect Dis. 2019. PMID: 30778533 Free PMC article.
114 results