Nail-patella syndrome - Renal and musculo-skeletal features

Nephrology Dialysis Transplantation

Volumn 17, Issue 1, 2002, Pages 169-170

  Kolhe, Nitin ^a   Stoves, John ^b   Will, Eric J ^b   Hartley, Barry ^b  

^a LEEDS GENERAL INFIRMARY   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

Focal segmental glomerulosclerosis; Nail patella syndrome; Nephrotic syndrome

Indexed keywords

CREATININE;

ADULT; ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CLINICAL FEATURE; ELECTRON MICROSCOPY; GLOMERULOSCLEROSIS; GLOMERULUS BASEMENT MEMBRANE; GOODPASTURE SYNDROME; HUMAN; KIDNEY BIOPSY; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; MEDICAL ASSESSMENT; MUSCULOSKELETAL DISEASE; NAIL PATELLA SYNDROME; PRIORITY JOURNAL;

EID: 0036146444     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/17.1.169     Document Type: Article

References (4)

1. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail-patella syndrome
2. Regulation of glomerular basement membrane collagen expression by LMX1B contributes to renal disease in nail-patella syndrome
3. Genetic counselling in hereditary osteo-onychodysplasia (HOOD, nail-patella syndrome) with nephropathy