A novel WT1 missense mutation presenting with Denys-Drash syndrome and cortical atrophy

Nephrology Dialysis Transplantation

Volumn 21, Issue 2, 2006, Pages 518-521

  Schumacher, Valérie ^a   Thumfart, Julia ^b   Drechsler, Matthias ^a   Essayie, Maximillian ^b   Royer Pokora, Brigitte ^a   Querfeld, Uwe ^b   Müller, Dominik ^b  

^a HEINRICH HEINE UNIVERSITY   (Germany)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Cortical atrophy; Denys Drash syndrome; WT1 mutation

Indexed keywords

WT1 PROTEIN;

ANORCHIA; ARTICLE; BRAIN ATROPHY; CASE REPORT; COMPUTER ASSISTED TOMOGRAPHY; DENYS DRASH SYNDROME; ECHOENCEPHALOGRAPHY; FOLLOW UP; HEART ARRHYTHMIA; HEART VENTRICLE HYPERTROPHY; HEMODIALYSIS; HERNIOPLASTY; HORSESHOE KIDNEY; HUMAN; HYDROCEPHALUS; INGUINAL HERNIA; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PERITONEAL DIALYSIS; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; STRABISMUS;

ATROPHY; CHILD, PRESCHOOL; CORPUS CALLOSUM; DENYS-DRASH SYNDROME; FOLLOW-UP STUDIES; HUMANS; INFANT; KARYOTYPING; MALE; MUTATION, MISSENSE; WT1 PROTEINS;

EID: 31544457860     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfi285     Document Type: Article

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