Myelomeningocele genotype-phenotype correlation findings in cilia, HH, PCP, and WNT signaling pathways.

Gabriela Ortiz-CruzAdolfo Aguayo-GómezLeonora Luna-MuñozLuis A Muñoz-TéllezOsvaldo M Mutchinick

Published in: Birth defects research (2021)

Our results support an association of GVs in Hh, Wnt, PCP, and cilia pathways, with MMC occurrence location, although further validation is needed. Furthermore, present results show a distinctive panel of gene-variants in H-MMC and LMMC subphenotypes, suggesting a feasible genotype-phenotype correlation.

Keyphrases

copy number
cell proliferation
stem cells
signaling pathway
risk assessment
genome wide
pi k akt
gene expression
epithelial mesenchymal transition
oxidative stress