Nogueira, CéliaSales Marques, JorgeNesti, ClaudiaAzevedo, LuisaDi Lullo, MartinaMeschini, M. ClaraSantorelli, FilippoVilarinho, Laura2014-03-172014-03-172013-12Mol Genet Metab. 2013 Dec;110(4):493-4. doi: 10.1016/j.ymgme.2013.09.010. Epub 2013 Sep 251096-7192doi: 10.1016/j.ymgme.2013.09.010http://hdl.handle.net/10400.18/2143Letter to the EditorengC10orf2Chromosome 10MDSTwinkleUniparental DisomyDoenças GenéticasIdentification of maternal uniparental isodisomy of chromosome 10 in a patient with mitochondrial DNA depletion syndromejournal article