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De novo variants disrupt an LDB1 -regulated transcriptional network in congenital ventriculomegaly

14 Dec 2024

Abstract excerpt

Congenital hydrocephalus, characterized by cerebral ventriculomegaly, is among the most common and least understood paediatric neurosurgical disorders. We have identified, in the largest assembled cerebral ventriculomegaly cohort (2697 parent-proband trios), an exome-wide significant enrichment of protein-altering de novo variants in LDB1 (P = 1.11 × 10-15). Eight unrelated patients with ventriculomegaly,...

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PMID: 39680505
DOI: 10.1093/brain/awae395

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