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

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-rar...

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Gepubliceerd in:Sci Rep
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group UK 2021
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Article
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7878900/
https://ncbi.nlm.nih.gov/pubmed/33574475
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-021-83058-7
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