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Zen, Paulo R.G. et al. Relato de um paciente brasileiro com síndrome de Wolfram. J. Pediatr. (Rio J.), Dez 2002, vol.78, no.6, p.529-532. ISSN 0021-7557

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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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Carvalho, Charles André et al. Ceratose pilar e ulerythema ophryogenes em mulher com monossomia do braço curto do cromosomo 18. An. Bras. Dermatol., Ago 2011, vol.86, no.4, suppl.1, p.42-45. ISSN 0365-0596

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