Fatal malonyl CoA decarboxylase deficiency due to maternal uniparental isodisomy of the telomeric end of chromosome 16

S Malvagia, L Papi, A Morrone, MA Donati, F Ciani, E Pasquini, G la Marca, Jasper Scholte, M Genuardi, E Zammarchi

Research output: Contribution to journalArticleAcademicpeer-review

18 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)705-712
Number of pages8
JournalAnnals of Human Genetics
Publication statusPublished - 2007

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