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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

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 ophthalmoplegia affecting muscles in the oculomotor and trochlear nerve distribu...

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Publicado no:BMC Genet
Principais autores: Engle, Elizabeth C, McIntosh, Nathalie, Yamada, Koki, Lee, Bjorn A, Johnson, Roger, O'Keefe, Michael, Letson, Robert, London, Arnold, Ballard, Evan, Ruttum, Mark, Matsumoto, Naomichi, Saito, Nakamichi, Collins, Mary Louise Z, Morris, Lisa, Monte, Monte Del, Magli, Adriano, de Berardinis, Teresa
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2002
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC100320/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/11882252/
https://ncbi.nlm.nih.govhttps://doi.org/10.1186/1471-2156-3-3
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