A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
Graziano C, D'Elia AV, Mazzanti L, Moscano F, Guidelli Guidi S, Scarano E, Turchetti D, Franzoni E, Romeo G, Damante G, Seri M.
Graziano C, et al. Among authors: guidelli guidi s.
Am J Med Genet A. 2007 Aug 1;143A(15):1802-5. doi: 10.1002/ajmg.a.31808.
Am J Med Genet A. 2007.
PMID: 17595013
No abstract available.