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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7878900/
https://www.ncbi.nlm.nih.gov/pubmed/33574475
http://dx.doi.org/10.1038/s41598-021-83058-7

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