Lebersche kongenitale Amaurose 12
Lebersche kongenitale Amaurose 12 ist eine autosomal rezessive Erkrankung, die auf Mutationen des RD3-Gens beruht.
Gliederung
Referenzen:
| 1. |
Friedman JS et. al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. [^] |
| 2. |
Preising MN et. al. (2012) Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy. [^] |
| 3. |
Perrault I et. al. (2013) Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype. [^] |
