TY  - GEN
AU  - Yoshimura,Keiko
AU  - Yoshida,Shigeo
AU  - Yamaji,Yoko
AU  - Komori,Aiko
AU  - Yoshida,Ayako
AU  - Hatae,Ken
AU  - Kubota,Toshiaki
AU  - Ishibashi,Tatsuro
TI  - De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome
SN  - 0002-9394
PY  - 2005///0425
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Child, Preschool
KW  - Coloboma
KW  - DNA Mutational Analysis
KW  - DNA-Binding Proteins
KW  - Exons
KW  - Female
KW  - Humans
KW  - Kidney
KW  - abnormalities
KW  - Mutation, Missense
KW  - Optic Disk
KW  - Optic Nerve
KW  - PAX2 Transcription Factor
KW  - Syndrome
KW  - Transcription Factors
KW  - Ultrasonography
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ajo.2004.10.002
ER  -