Article
A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice
1 Jan 2018
Abstract excerpt
ABSTRACT Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39...