发表年份:.11
发表杂志:NatureMedicine
影响因子:53.
JCR分区:Q1
作者团队:
ShengChihJin,WeilaiDong,AdamJ.Kundishora,ShreyasPanchagnula,AndresMoreno-De-Luca,CharutaG.Furey,AugustA.Allocco,RebeccaL.Walker,CarolNelson-Williams,HannahSmith,AshleyDunbar,SierraConineetal.
研究方向:外显子测序;脑脊液;先天性脑积水
论文题目:
Exomesequencingimplicatesgeneticdisruptionofprenatalneuro-gliogenesisinsporadiccongenitalhydrocephalus
论文摘要:
Congenitalhydrocephalus(CH),characterizedbyenlargedbrainventricles,isconsideredadiseaseofexcessivecerebrospinalfluid(CSF)accumulationandtherebytreatedwithneurosurgicalCSFdiversionwithhighmorbidityandfailurerates.Thepoorneurodevelopmentalout