Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus

BACKGROUND: Human congenital non-syndromic hydrocephalus is a vastly heterogeneous condition. A subgroup of cases are not secondary to a specific cause (eg, a neural tube defect), and within this subgroup, autosomal recessive inheritance has been described. One homozygous mutation in the DAPLE (Dvl-... View More