Nephropathy in Townes-Brocks syndrome (SALL1 mutation): Imaging and pathological findings in adulthood

Nephrology Dialysis Transplantation

Volumn 24, Issue 4, 2009, Pages 1341-1345

  Faguer, Stanislas ^a,b   Pillet, Adèle ^a   Chassaing, Nicolas ^b   Merhenberger, Marion ^a   Bernadet Monrozies, Pauline ^a   Guitard, Joëlle ^a   Chauveau, Dominique ^a,b  

^a CHU RANGUEIL   (France)

^b CHU PURPAN   (France)

Author keywords

Adulthood; Kidney development; Nephropathy; SALL1; Townes Brockes syndrome

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CREATININE;

ADULT; ADULTHOOD; ALANINE AMINOTRANSFERASE BLOOD LEVEL; ALCOHOL LIVER DISEASE; ANUS ATRESIA; ARTICLE; ASPARTATE AMINOTRANSFERASE BLOOD LEVEL; AUTOSOMAL DOMINANT INHERITANCE; BLOOD EXAMINATION; BLOOD PRESSURE; CASE REPORT; CHRONIC KIDNEY FAILURE; CLINICAL EXAMINATION; COMPUTER ASSISTED TOMOGRAPHY; CREATININE BLOOD LEVEL; DEVELOPMENTAL GENE; DIAGNOSTIC IMAGING; EAR DYSPLASIA; ECHOGRAPHY; FOCAL GLOMERULOSCLEROSIS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GLOMERULUS FILTRATION RATE; GOUT; HEARING LOSS; HUMAN; HYPERTENSION; INDEL MUTATION; KIDNEY AGENESIS; KIDNEY DISEASE; KIDNEY DYSPLASIA; LEARNING DISORDER; LIMB MALFORMATION; LIVER FUNCTION TEST; MALE; MICROTIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOPHYSIOLOGY; POLYDACTYLY; PRIORITY JOURNAL; PROTEINURIA; SYNDACTYLY; TOWNES BROCKS SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; GLOMERULAR FILTRATION RATE; HUMANS; KIDNEY FAILURE, CHRONIC; MALE; SYNDROME; TRANSCRIPTION FACTORS;

EID: 65349101889     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfp014     Document Type: Article

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