SLC12A ion transporter mutations in sporadic and familial human congenital hydrocephalus

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 etiology of mo...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Jin, Sheng Chih, Furey, Charuta G., Zeng, Xue, Allocco, August, Nelson‐Williams, Carol, Dong, Weilai, Karimy, Jason K., Wang, Kevin, Ma, Shaojie, Delpire, Eric, Kahle, Kristopher T.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2019
Assuntos:
Clinical Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6732308/
https://ncbi.nlm.nih.gov/pubmed/31393094
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.892
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