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Article

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

Nature genetics - 1 Nov 2001

Nakano M, Yamada K, Fain J, Sener E C, Selleck C J, Awad A H, Zwaan J, Mullaney P B, Bosley T M, Engle E C

Abstract excerpt

Isolated strabismus affects 1-5% of the general population. Most forms of strabismus are multifactorial in origin; although there is probably an inherited component, the genetics of these disorders remain unclear. The congenital fibrosis syndromes (CFS) represent a subset of monogenic isolated strabismic disorders that are characterized by restrictive ophthalmoplegia, and include congenital fibrosis of the...

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PMID: 11600883
DOI: 10.1038/ng744

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.PMID 11600883Read ↗

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CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX.Semantic proximity Read ↗

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The Genetic Basis of Incomitant Strabismus: Consolidation of the Current Knowledge of the Genetic Foundations of DiseaseSemantic proximity Read ↗

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