Gain-of-function mutations in Trim71 linked to congenital hydrocephalus.
Yingying ChenXianfa YangNaihe JingPublished in: PLoS biology (2023)
The genetic basis of congenital hydrocephalus is only partially understood. A new study in PLOS Biology reports a potential gain-of-function pathological mechanism of congenital hydrocephalus in mouse embryonic stem cells that involves Wnt-β-catenin signaling pathway regulation.