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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1.
Assunto A, Ferrara U, De Luca A, Pivonello C, Lombardo L, Piscitelli A, Tortora C, Pinna V, Daniele P, Pivonello R, Russo MG, Limongelli G, Colao A, Tartaglia M, Strisciuglio P, Melis D. Assunto A, et al. Among authors: tortora c. Orphanet J Rare Dis. 2019 Nov 15;14(1):261. doi: 10.1186/s13023-019-1223-1. Orphanet J Rare Dis. 2019. PMID: 31730495 Free PMC article.
Brachydactyly type E in an Italian family with 6p25 trisomy.
Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA. Fontana P, et al. Among authors: tortora c. Eur J Med Genet. 2017 Mar;60(3):195-199. doi: 10.1016/j.ejmg.2017.01.006. Epub 2017 Jan 19. Eur J Med Genet. 2017. PMID: 28111183