Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

Nephrology Dialysis Transplantation

Volumn 22, Issue 7, 2007, Pages 2076-2078

  Benetti, Elisa ^a   Artifoni, Lina ^a   Salviati, Leonardo ^a   Pinello, Luisa ^a   Perrotta, Silverio ^b   Zuffardi, Orsetta ^c   Zacchello, Graziella ^a   Murer, Luisa ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c UNIVERSITY OF PAVIA   (Italy)

Author keywords

Coloboma; Gene deletion; Haploinsufficiency; PAX2 gene; Rare kidney diseases; Renal coloboma syndrome; Renal developmental anomalies; Renal hypodysplasia

Indexed keywords

CREATININE; DNA; NITROGEN; TRANSCRIPTION FACTOR PAX2; UREA;

ARTICLE; CASE REPORT; CHROMOSOME 10; CHROMOSOME ANALYSIS; CHRONIC KIDNEY FAILURE; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CREATININE BLOOD LEVEL; CYSTOGRAPHY; ECHOGRAPHY; FEEDING DISORDER; FEMALE; GENE DELETION; GENE LOCUS; HUMAN; INTERSTITIAL CHROMOSOME DELETION; JOINT LAXITY; KARYOTYPE 46,XX; KIDNEY DYSFUNCTION; KIDNEY HYPOPLASIA; MUSCLE HYPOTONIA; OLIGOHYDRAMNIOS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DEVELOPMENT; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; UREA NITROGEN BLOOD LEVEL;

CHILD; CHROMOSOMES, HUMAN, PAIR 10; COLOBOMA; FEMALE; GENE DELETION; GENE DOSAGE; HUMANS; KARYOTYPING; KIDNEY; OPTIC NERVE; PAX2 TRANSCRIPTION FACTOR;

EID: 34547851679     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfm187     Document Type: Article

References (10)

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