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 nerv...

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Détails bibliographiques
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2002
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC100320/
https://ncbi.nlm.nih.gov/pubmed/11882252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2156-3-3
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