Nail-patella syndrome. Overview on clinical and molecular findings

Pediatric Nephrology

Volumn 17, Issue 9, 2002, Pages 703-712

  Bongers, Ernie M H F ^a   Gubler, Mari Claire ^b   Knoers, Nine V A M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b INSERM   (France)

Author keywords

Glomerular basement membrane; Glomerulopathy; LMX1B; Nail patella syndrome; Transcriptional regulation; Type IV collagen

Indexed keywords

COLLAGEN TYPE 4; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

ALPHA CHAIN; CLINICAL FEATURE; DISEASE SEVERITY; GENE IDENTIFICATION; GENETIC ANALYSIS; GENOTYPE; GLOMERULOPATHY; GLOMERULUS BASEMENT MEMBRANE; HUMAN; IMMUNOHISTOCHEMISTRY; MORPHOGENESIS; MOUSE; NAIL DYSPLASIA; NAIL PATELLA SYNDROME; NONHUMAN; NUCLEOTIDE SEQUENCE; OPEN ANGLE GLAUCOMA; PATHOGENESIS; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; REVIEW;

COLLAGEN TYPE IV; EXTREMITIES; GENOTYPE; HOMEODOMAIN PROTEINS; HUMANS; KIDNEY DISEASES; LINKAGE (GENETICS); MUTATION; NAIL-PATELLA SYNDROME; NAILS, MALFORMED; PATELLA; PHENOTYPE; TRANSCRIPTION FACTORS;

EID: 0036957091     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-002-0911-5     Document Type: Review

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