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Found 2 dataset(s) matching "cfeom1".

Analysis of human sarcospan as a candidate gene for CFEOM1
- Organization: U.S. Department of Health & Human Services
- Updated: 2025-09-06 | Harvested: September 06, 2025 at 10:33 AM
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)....
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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
- Organization: U.S. Department of Health & Human Services
- Updated: 2025-09-06 | Harvested: September 06, 2025 at 08:08 AM
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...
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