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TUhjnbcbe - 2022/6/19 16:42:00

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

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