De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.

Yoshimura, Keiko

De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome. [electronic resource] - American journal of ophthalmology Apr 2005 - 733-5 p. digital

Publication Type: Case Reports; Journal Article

0002-9394

10.1016/j.ajo.2004.10.002 doi


Abnormalities, Multiple--genetics
Child, Preschool
Coloboma--genetics
DNA Mutational Analysis
DNA-Binding Proteins--genetics
Exons--genetics
Female
Humans
Kidney--abnormalities
Mutation, Missense
Optic Disk--abnormalities
Optic Nerve--abnormalities
PAX2 Transcription Factor
Syndrome
Transcription Factors--genetics
Ultrasonography