TY  - GEN
AU  - Laimutis,Kucinskas
AU  - Jackson,Craig
AU  - Xu,Xinjie
AU  - Warman,Berta
AU  - Sarunas,Rudaitis
AU  - Andriuskeviciute,Irena
AU  - Birute,Pundziene
AU  - Schimmenti,Lisa A
AU  - Raca,Gordana
TI  - Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene
SN  - 1552-4833
PY  - 2012///0924
KW  - Adolescent
KW  - Biopsy
KW  - Child
KW  - Child, Preschool
KW  - Coloboma
KW  - diagnosis
KW  - Glomerulosclerosis, Focal Segmental
KW  - pathology
KW  - Humans
KW  - Infant
KW  - Kidney
KW  - diagnostic imaging
KW  - PAX2 Transcription Factor
KW  - genetics
KW  - Phenotype
KW  - Renal Insufficiency
KW  - Sequence Deletion
KW  - Ultrasonography
KW  - Vesico-Ureteral Reflux
N1  - Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.a.35342
ER  -