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Article

ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.

Human mutation - 1 Dec 2012

Yagnik Garima, Ghuman Apar, Kim Sundon, Stevens Christina G, Kimonis Virginia, Stoler Joan, Sanchez-Lara Pedro A, Bernstein Jonathan A, Naydenov Cyril, Drissi Hicham, Cunningham Michael L, Kim Jinoh, Boyadjiev Simeon A

Abstract excerpt

Craniosynostosis is the early fusion of one or more sutures of the infant skull and is a common defect occurring in approximately 1 of every 2,500 live births. Nonsyndromic craniosynostosis (NSC) accounts for approximately 80% of all cases and is thought to have strong genetic determinants that a...

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Source

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Identifiers

PMID: 22829454
DOI: 10.1002/humu.22166
PMCID: PMC3495992

Genes

ALX4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22829454-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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