Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningocele subjects than in reference subjects in gnomAD...

Descripción completa

Detalles Bibliográficos
Autores principales: Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E., Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7514064/
https://www.ncbi.nlm.nih.gov/pubmed/32970752
http://dx.doi.org/10.1371/journal.pone.0239083

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7514064/
https://www.ncbi.nlm.nih.gov/pubmed/32970752
http://dx.doi.org/10.1371/journal.pone.0239083

Ejemplares similares