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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מידע ביבליוגרפי
Main Authors: 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
פורמט: Artigo
שפה:Inglês
יצא לאור: BioMed Central 2002
נושאים:
Research Article
גישה מקוונת: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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