Datasets

2 datasets

Organization: HealthData.Gov Tag: cfeom1 Clear all

HealthData.Gov

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in

Background To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive…

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Updated Oct 29, 2026

HealthData.Gov

Analysis of human sarcospan as a candidate gene for CFEOM1

Background Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the…

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Updated Oct 29, 2026