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Article

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific reports - 11 Feb 2021

Au K S, Hebert L, Hillman P, Baker C, Brown M R, Kim D-K, Soldano K, Garrett M, Ashley-Koch A, Lee S, Gleeson J, Hixson J E, Morrison A C, Northrup H

Abstract excerpt

Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and environmental factors contribute to disease risk but the mechanism is unclear. This study examined 506 MMC subjects for ultra-rare deleterious variants (URDVs, absent in gnomAD v2.1.1 controls that have Combined Annotation Dependent Depletion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33574475
DOI: 10.1038/s41598-021-83058-7
PMCID: PMC7878900

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