A case of renal-coloboma syndrome associated with mental developmental delay exhibiting a novel PAX2 gene mutation

Clinical Nephrology

Volumn 72, Issue 6, 2009, Pages 497-500

  Miyazawa, T ^a   Nakano, M ^a   Takemura, Y ^a   Miyazaki, K ^a   Yanagida, H ^a   Fujita, S ^a   Sugimoto, K ^a   Okada, M ^a   Takemura, T ^a  

^a KINKI UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Apoptosis; Myopia kidney; PAX2 gene; Renal coloboma syndrome

Indexed keywords

CREATININE; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; TRANSCRIPTION FACTOR PAX2; UREA;

ADULT; ARTICLE; ASTIGMATISM; CASE REPORT; CREATININE CLEARANCE; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; EXON; GENE MUTATION; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; KIDNEY BIOPSY; KIDNEY COLOBOMA SYNDROME; KIDNEY DYSFUNCTION; KIDNEY DYSPLASIA; KIDNEY FAILURE; MALE; MASS SCREENING; MENTAL DEFICIENCY; MICTURITION CYSTOURETHROGRAPHY; NOCTURNAL ENURESIS; PROTEINURIA; RETINA DETACHMENT; UREA NITROGEN BLOOD LEVEL;

EID: 71449093043     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/cnp72497     Document Type: Article

References (13)

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