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Article

A likely HOXC4 predisposition variant for Chiari malformations.

Journal of neurosurgery - 1 Jul 2023

Brockmeyer Douglas L, Cheshier Samuel H, Stevens Jeff, Facelli Julio C, Rowe Kerry, Heiss John D, Musolf Anthony, Viskochil David H, Allen-Brady Kristina L, Cannon-Albright Lisa A

Abstract excerpt

OBJECTIVE: Inherited variants predisposing patients to type 1 or 1.5 Chiari malformation (CM) have been hypothesized but have proven difficult to confirm. The authors used a unique high-risk pedigree population resource and approach to identify rare candidate variants that likely predispose individuals to CM and protein structure prediction tools to identify pathogenicity mechanisms. METHODS: By using the Utah...

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Identifiers

PMID: 36433874
DOI: 10.3171/2022.10.JNS22956
PMCID: PMC10193467

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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