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 Artigalás, Osvaldo et al. A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity. Genet. Mol. Biol., 2012, vol.35, no.2, p.424-427. ISSN 1415-4757
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 De Molfetta, Greice Andreotti et al. A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arq. Neuro-Psiquiatr., Dec 2002, vol.60, no.4, p.1011-1014. ISSN 0004-282X


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