Ontology highlight
ABSTRACT:
SUBMITTER: Furey CG
PROVIDER: S-EPMC7839075 | biostudies-literature | 2018 Jul
REPOSITORIES: biostudies-literature
Neuron 20180705 2
Congenital hydrocephalus (CH), featuring markedly enlarged brain ventricles, is thought to arise from failed cerebrospinal fluid (CSF) homeostasis and is treated with lifelong surgical CSF shunting with substantial morbidity. CH pathogenesis is poorly understood. Exome sequencing of 125 CH trios and 52 additional probands identified three genes with significant burden of rare damaging de novo or transmitted mutations: TRIM71 (p = 2.15 × 10<sup>-7</sup>), SMARCC1 (p = 8.15 × 10<sup>-10</sup>), an ...[more]