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

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

Abstract 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...

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Bibliographic Details
Main Authors: K. S. Au, L. Hebert, P. Hillman, C. Baker, M. R. Brown, D.-K. Kim, K. Soldano, M. Garrett, A. Ashley-Koch, S. Lee, J. Gleeson, J. E. Hixson, A. C. Morrison, H. Northrup
Format: Article
Language:English
Published: Nature Publishing Group 2021-02-01
Series:Scientific Reports
Online Access:https://doi.org/10.1038/s41598-021-83058-7

Internet

https://doi.org/10.1038/s41598-021-83058-7

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