| Autor: |
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. |
| Předmět: |
|
| Zdroj: |
Journal of Medical Genetics; Mar2005, Vol. 42 Issue 3, p253-259, 7p, 4 Diagrams, 1 Chart |
| Abstrakt: |
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. |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
