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Article

AXIN1 mutations in nonsyndromic craniosynostosis.

Journal of neurosurgery. Pediatrics - 1 Sept 2024

Timberlake Andrew T, Hemal Kshipra, Gustafson Jonas A, Hao Le Thi, Valenzuela Irene, Slavotinek Anne, Cunningham Michael L, Kahle Kristopher T, Lifton Richard P, Persing John A

Abstract excerpt

OBJECTIVE: Occurring once in every 2000 live births, craniosynostosis (CS) is the most frequent cranial birth defect. Although the genetic etiologies of syndromic CS cases are well defined, the genetic cause of most nonsyndromic cases remains unknown. METHODS: The authors analyzed exome or RNA sequencing data from 876 children with nonsyndromic CS, including 291 case-parent trios and 585 additional probands. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 38905707
DOI: 10.3171/2024.5.PEDS24115
PMCID: PMC11200303

Genes

CS
AXIN1

Provenance

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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