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Article

Spontaneous spinal CSF leaks: a rare variant exome sequencing study and functional analysis.

The Lancet. Neurology - 1 Jul 2026

Parks Cassie A, Singh Mukti, Wohler Elizabeth, Martin Renan, Peeters Silke, Juzwiak Emily E, Sun Xinyi, Loeys Bart L, Sobreira Nara, Baldock Clair, Schievink Wouter I, Dietz Harry C

Abstract excerpt

BACKGROUND: Spontaneous spinal CSF leaks are associated with connective tissue diseases including Marfan syndrome and Loeys-Dietz syndrome, which are caused by mutations in genes that influence the content and integrity of the extracellular matrix. Patients with spontaneous spinal CSF leaks without a defined connective tissue disease diagnosis can show subtle or non-specific connective tissue disease...

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Identifiers

PMID: 42309087
DOI: 10.1016/S1474-4422(26)00140-7
PMCID: PMC13275636

Genes

FBN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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