Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, et al
. Refining the Phenotype of Recurrent Rearrangements of Chromosome 16. Int J Mol Sci. 2019;20: pubmed publisher
..We also found that in some cases a second-site CNV could explain the phenotypic heterogeneity by a simple additive effect or a pejorative synergistic effect. ..
Rigoldi M, Verrecchia E, Manna R, Mascia M. Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses. Ital J Pediatr. 2018;44:132 pubmed publisher
..To avoid missing data and to save time, we propose a semistructured medical history form to be filled in by the patients or their caregivers while waiting for evaluation by a specialist. ..