A complex microdeletion 17q12 phenotype in a patient with recurrent de novo membranous nephropathy

BMC Nephrology

Volumn 13, Issue 1, 2012, Pages

  Hinkes, Bernward ^a   Hilgers, Karl F ^a   Bolz, Hanno J ^b   Goppelt Struebe, Margarete ^a   Amann, Kerstin ^a   Nagl, Sandra ^b   Bergmann, Carsten ^b   Rascher, Wolfgang ^a   Eckardt, Kai Uwe ^a   Jacobi, Johannes ^a  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b Center for Human Genetics   (Germany)

Author keywords

HNF1; LHX1; Mayer Rokitansky Kuester Hauser Syndrome membranous nephropathy; Microdeletion 17q12 syndrome; Nephrotic syndrome

Indexed keywords

HEPATOCYTE NUCLEAR FACTOR 1BETA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR LHX1; UNCLASSIFIED DRUG;

ADULT; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 17Q12; COMPARATIVE GENOMIC HYBRIDIZATION; EHLERS DANLOS SYNDROME; FEMALE; HEMODIALYSIS; HIP DYSPLASIA; HUMAN; JOINT HYPERMOBILITY; JOINT LAXITY; KIDNEY AGENESIS; KIDNEY DYSFUNCTION; KIDNEY DYSPLASIA; KIDNEY TRANSPLANTATION; KYPHOSCOLIOSIS; MEMBRANOUS GLOMERULONEPHRITIS; NEPHROTIC SYNDROME; PHENOTYPE; RECURRENT DISEASE; ROKITANSKY SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; GLOMERULONEPHRITIS, MEMBRANOUS; HUMANS; KIDNEY; MULLERIAN DUCTS; PHENOTYPE; RECURRENCE; SOMITES; SPINE; UTERUS; VAGINA;

EID: 84860803630     PISSN: None     EISSN: 14712369     Source Type: Journal    
DOI: 10.1186/1471-2369-13-27     Document Type: Article

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