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Atrioventricular canal defect in patients with RASopathies.
Digilio MC, Romana Lepri F, Dentici ML, Henderson A, Baban A, Roberti MC, Capolino R, Versacci P, Surace C, Angioni A, Tartaglia M, Marino B, Dallapiccola B. Digilio MC, et al. Among authors: romana lepri f. Eur J Hum Genet. 2013 Feb;21(2):200-4. doi: 10.1038/ejhg.2012.145. Epub 2012 Jul 11. Eur J Hum Genet. 2013. PMID: 22781091 Free PMC article.
Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi-Bickel syndrome.
Pennisi A, Maranda B, Benoist JF, Baudouin V, Rigal O, Pichard S, Santer R, Romana Lepri F, Novelli A, Ogier de Baulny H, Dionisi-Vici C, Schiff M. Pennisi A, et al. Among authors: romana lepri f. J Inherit Metab Dis. 2020 May;43(3):540-548. doi: 10.1002/jimd.12203. Epub 2020 Jan 1. J Inherit Metab Dis. 2020. PMID: 31816104