Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Congenital Fibrosis of the Extraocular Muscles

1 Jan 2008

Abstract excerpt

Congenital fibrosis of the extraocular muscles (CFEOM) is a strabismus syndrome characterized by non-progressive, restrictive ophthalmoplegia of the extraocular muscles and congenital blepharoptosis. Three clinical phenotypes for familial CFEOM (CFEOM1, 2, and 3) have been delineated, for which two genes have been identified to date: KIF21A for CFEOM1 and 3 and PHOX2A/ARIX for CFEOM2. Insights gained from...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Connective tissue disorders research
Share to Glycogen Storage Diseases and Myoclonus
Share to Ophthalmology and Eye Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18214786
DOI: 10.1080/08820530701745181

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Congenital Fibrosis of the Extraocular MusclesPMID 18214786Read ↗

[Congenital fibrosis of extraocular muscles (CFEOM) and other phenotypes of congenital cranial dysinnervation syndromes (CCDD)].Semantic proximity Read ↗

Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to ManagementSemantic proximity Read ↗

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles.Semantic proximity Read ↗

Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements.Semantic proximity Read ↗

KIF21A pathogenic variants cause congenital fibrosis of extraocular muscles type 3.Semantic proximity Read ↗

[Congenital cranial dysinnervation disorders (CCDD)].Semantic proximity Read ↗

Clinical and genetic characteristics of Chinese patients with congenital fibrosis of the extraocular muscles.Semantic proximity Read ↗

Applications of Molecular Genetics to the Understanding of Congenital Ocular Motility DisordersSemantic proximity Read ↗

Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3).Semantic proximity Read ↗

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 ↗

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

KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM).Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.