Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balance translocation (2;13) (q37.3;q12.11) and identification of candidate genes

Aubourg, P.; Krahn, M.; Bernard, R.; Nguyen, K.; Forzano, O.; Boccaccio, I.; Delague, V.; Desandre-Giovannoli, A.; Pouget, J.; Depétris, D.; Mattei, M.-G.; Philip, N.; Lévy, N.
March 2005
Journal of Medical Genetics;Mar2005, Vol. 42 Issue 3, p253
Academic Journal
Reports on the assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus. Characterization of congenital cranial dysinnervation disorders by ophthalmoplegia and ptosis; Exploration of three generation family in which members are affected with autosomal dominant CFEOM3; Propositions that a gene was interrupted by one of the breakpoints and caused the phenotype.


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