MEGDEL Syndrome: Expanding the Phenotype and New Mutations.
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DOI: 10.1055/s-0037-1602833
Abstract: 3-MEthylGlutaconic aciduria, Deafness, Encephalopathy, neuroradiological evidence of Leigh-like disease (MEGDEL syndrome) was initially described in four children with additional features of defective oxidative phosphorylation. Loss of functional variants in the SERAC1 gene was later reported… read more here.
Keywords: new mutations; phenotype new; syndrome expanding; megdel syndrome ... See more keywords