SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus.

Sheng Chih JinCharuta G FureyXue ZengAugust AlloccoCarol Nelson-WilliamsWeilai DongJason K KarimyKevin WangShaojie MaEric DelpireKristopher T Kahle

Published in: Molecular genetics & genomic medicine (2019)

These findings identify two novel, related genes associated with CH, and implicate genetically encoded impairments in ion transport for the first time in CH pathogenesis.

Keyphrases

room temperature
endothelial cells
late onset
early onset
induced pluripotent stem cells
subarachnoid hemorrhage
cerebrospinal fluid
brain injury
ionic liquid