Do two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus?
Our data validate CCDC88C as causing autosomal recessive, primary non-syndromic congenital hydrocephalus, suggesting this gene may be an important cause of congenital hydrocephalus, and underscore the important role of the C-terminal PDZ domain-binding motif in the DAPLE protein.
EAT volume is associated with myocardial ischemia and improves the discriminative power for independent ischemia prediction over CCS. In hypertensive patients, EAT is characterized by lower density and higher volumes.