Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Schimmenti, L A

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. [electronic resource] - American journal of medical genetics Nov 1995 - 204-8 p. digital

Publication Type: Case Reports; Journal Article

0148-7299

10.1002/ajmg.1320590217 doi


Abnormalities, Multiple--genetics
Adolescent
Adult
Child
Coloboma--genetics
DNA-Binding Proteins--genetics
Female
Genes, Dominant
Humans
Kidney--abnormalities
Male
Optic Nerve--abnormalities
PAX2 Transcription Factor
Pedigree
Sequence Deletion
Syndrome
Transcription Factors--genetics
Ultrasonography
Vesico-Ureteral Reflux--genetics