Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene.

Laimutis, Kucinskas

Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. [electronic resource] - American journal of medical genetics. Part A Jun 2012 - 1437-41 p. digital

Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1552-4833

10.1002/ajmg.a.35342 doi


Adolescent
Biopsy
Child
Child, Preschool
Coloboma--diagnosis
Glomerulosclerosis, Focal Segmental--pathology
Humans
Infant
Kidney--diagnostic imaging
PAX2 Transcription Factor--genetics
Phenotype
Renal Insufficiency--diagnosis
Sequence Deletion
Ultrasonography
Vesico-Ureteral Reflux--diagnosis