TY  - GEN
AU  - Schimmenti,L A
AU  - Pierpont,M E
AU  - Carpenter,B L
AU  - Kashtan,C E
AU  - Johnson,M R
AU  - Dobyns,W B
TI  - Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies
SN  - 0148-7299
PY  - 1996///0327
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Child
KW  - Coloboma
KW  - DNA-Binding Proteins
KW  - Female
KW  - Genes, Dominant
KW  - Humans
KW  - Kidney
KW  - abnormalities
KW  - Male
KW  - Optic Nerve
KW  - PAX2 Transcription Factor
KW  - Pedigree
KW  - Sequence Deletion
KW  - Syndrome
KW  - Transcription Factors
KW  - Ultrasonography
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.1320590217
ER  -