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• W2807737986 endingPage "a003145" @default.
• W2807737986 startingPage "a003145" @default.
• W2807737986 abstract "Hydrocephalus, a disorder of impaired cerebrospinal fluid (CSF) homeostasis, often results from an imbalance between CSF production and reabsorption. Rarely, hydrocephalus is the consequence of CSF hypersecretion in the context of diffuse villous hyperplasia of the choroid plexus (DVHCP). The limited genetic information in previously reported cases suggests a high prevalence of gains of Chromosome 9p in this disease, although the critical genes involved in DVHCP pathogenesis have not been identified. Here, we report a patient with syndromic hydrocephalus with DVHCP associated with a novel 9p24.3-11.2 triplication and 15q13.2-q13.3 microdeletion. We review the clinical, radiological, and pathological features of DVHCP, as well as its surgical management. A better understanding of the genetic basis of DVHCP could spur the development of rational, targeted nonsurgical hydrocephalus treatments." @default.
• W2807737986 created "2018-06-21" @default.
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• W2807737986 date "2018-06-12" @default.
• W2807737986 modified "2023-10-12" @default.
• W2807737986 title "9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus" @default.
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• W2807737986 doi "https://doi.org/10.1101/mcs.a003145" @default.
• W2807737986 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6169828" @default.
• W2807737986 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29895553" @default.
• W2807737986 hasPublicationYear "2018" @default.
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