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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.
Di Candia F, Fontana P, Paglia P, Falco M, Rosano C, Piscopo C, Cappuccio G, Siano MA, De Brasi D, Mandato C, De Maggio I, Squeo GM, Monica MD, Scarano G, Lonardo F, Strisciuglio P, Merla G, Melis D. Di Candia F, et al. Among authors: fontana p. Eur J Pediatr. 2022 Jan;181(1):171-187. doi: 10.1007/s00431-021-04108-w. Epub 2021 Jul 7. Eur J Pediatr. 2022. PMID: 34232366 Free PMC article. Review.
New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants.
Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, Ginocchio VM, Mormile A, Nitsch L, Andria G, Melis D. Cappuccio G, et al. Among authors: fontana p. Ital J Pediatr. 2016 Apr 12;42:39. doi: 10.1186/s13052-016-0246-7. Ital J Pediatr. 2016. PMID: 27072107 Free PMC article.
541 results