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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732308/
https://www.ncbi.nlm.nih.gov/pubmed/31393094
http://dx.doi.org/10.1002/mgg3.892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732308/
https://www.ncbi.nlm.nih.gov/pubmed/31393094
http://dx.doi.org/10.1002/mgg3.892

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