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Article

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.

Cold Spring Harbor molecular case studies - 1 Feb 2020

Kingsmore Stephen F, Ramchandar Nanda, James Kiely, Niemi Anna-Kaisa, Feigenbaum Annette, Ding Yan, Benson Wendy, Hobbs Charlotte, Nahas Shareef, Chowdhury Shimul, Dimmock David

Abstract excerpt

Neonatal encephalopathy with seizures is a presentation in which rapid whole-genome sequencing (rWGS) has shown clinical utility and improved outcomes. We report a neonate who presented on the third day of life with seizures refractory to antiepileptic medications and neurologic and computerized tomographic findings consistent with severe generalized brain swelling. rWGS revealed compound heterozygous variants in...

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Identifiers

PMID: 32014857
DOI: 10.1101/mcs.a004705
PMCID: PMC6996516

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