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Article

Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.

Acta neuropathologica communications - 6 Jun 2021

Marguet Florent, Vezain Myriam, Marcorelles Pascale, Audebert-Bellanger Séverine, Cassinari Kévin, Drouot Nathalie, Chambon Pascal, Gonzalez Bruno J, Horowitz Arie, Laquerriere Annie, Saugier-Veber Pascale

Abstract excerpt

The prevalence of congenital hydrocephalus has been estimated at 1.1 per 1000 infants when including cases diagnosed before 1 year of age after exclusion of neural tube defects. Classification criteria are based either on CSF dynamics, pathophysiological mechanisms or associated lesions. Whereas inherited syndromic hydrocephalus has been associated with more than 100 disease-causing genes, only four genes are...

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Identifiers

PMID: 34092257
DOI: 10.1186/s40478-021-01207-5
PMCID: PMC8183048

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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