Article
Exome sequencing implicates genetic disruption of prenatal neuro-gliogenesis in sporadic congenital hydrocephalus.
Nature medicine - 1 Nov 2020
Jin Sheng Chih, Dong Weilai, Kundishora Adam J, Panchagnula Shreyas, Moreno-De-Luca Andres, Furey Charuta G, Allocco August A, Walker Rebecca L, Nelson-Williams Carol, Smith Hannah, Dunbar Ashley, Conine Sierra, Lu Qiongshi, Zeng Xue, Sierant Michael C, Knight James R, Sullivan William, Duy Phan Q, DeSpenza Tyrone, Reeves Benjamin C, Karimy Jason K, Marlier Arnaud, Castaldi Christopher, Tikhonova Irina R, Li Boyang, Peña Helena Perez, Broach James R, Kabachelor Edith M, Ssenyonga Peter, Hehnly Christine, Ge Li, Keren Boris, Timberlake Andrew T, Goto June, Mangano Francesco T, Johnston James M, Butler William E, Warf Benjamin C, Smith Edward R, Schiff Steven J, Limbrick David D, Heuer Gregory, Jackson Eric M, Iskandar Bermans J, Mane Shrikant, Haider Shozeb, Guclu Bulent, Bayri Yasar, Sahin Yener, Duncan Charles C, Apuzzo Michael L J, DiLuna Michael L, Hoffman Ellen J, Sestan Nenad, Ment Laura R, Alper Seth L, Bilguvar Kaya, Geschwind Daniel H, Günel Murat, Lifton Richard P, Kahle Kristopher T
Abstract excerpt
Congenital hydrocephalus (CH), characterized by enlarged brain ventricles, is considered a disease of excessive cerebrospinal fluid (CSF) accumulation and thereby treated with neurosurgical CSF diversion with high morbidity and failure rates. The poor neurodevelopmental outcomes and persistence of ventriculomegaly in some post-surgical patients highlight our limited knowledge of disease mechanisms. Through...
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