Renal malformations associated with mutations of developmental genes: Messages from the clinic

Pediatric Nephrology

Volumn 25, Issue 11, 2010, Pages 2247-2255

  Adalat, Shazia ^a   Bockenhauer, Detlef ^a   Ledermann, Sarah E ^a   Hennekam, Raoul C ^b   Woolf, Adrian S ^c  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Deletion; Gene; Malformation; Mutation; Renal tract

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; TRANSCRIPTION FACTOR PAX2;

CHROMOSOME DELETION; COHORT ANALYSIS; COLOBOMA; DEVELOPMENTAL GENE; DIABETES MELLITUS; DISEASE EXACERBATION; FAMILY; FRASER SYNDROME; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SCREENING; HUMAN; KIDNEY CYST; KIDNEY MALFORMATION; OUTCOME ASSESSMENT; PRIORITY JOURNAL; REVIEW;

CHILD; GENES, DEVELOPMENTAL; GENOME-WIDE ASSOCIATION STUDY; GLOMERULONEPHRITIS, IGA; GLYCOSYLATION; HUMANS; IMMUNOGLOBULIN A; KIDNEY; MODELS, BIOLOGICAL; MUTATION;

EID: 77957253564     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-010-1578-y     Document Type: Review

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