SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

Abstract Background Congenital hydrocephalus (CH) is a highly morbid disease that features enlarged brain ventricles and impaired cerebrospinal fluid homeostasis. Although early linkage or targeted sequencing studies in large multigenerational families have localized several genes for CH, the etiolo...

Full description

Bibliographic Details
Main Authors: Sheng Chih Jin, Charuta G. Furey, Xue Zeng, August Allocco, Carol Nelson‐Williams, Weilai Dong, Jason K. Karimy, Kevin Wang, Shaojie Ma, Eric Delpire, Kristopher T. Kahle
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
hydrocephalus
KCC3
KCC4
SLC12A6
SLC12A7
whole exome sequencing
Online Access:https://doi.org/10.1002/mgg3.892

Internet

https://doi.org/10.1002/mgg3.892

Similar Items