Nail-Patella syndrome

Journal of Clinical Rheumatology

Volumn 17, Issue 7, 2011, Pages 402-

  Fernandes, Gisele Cristine Dyonísio ^a   Dos Santos Torres, Ulysses ^a   Funes, Elisete ^a   De Toledo, Roberto Acayaba ^a  

^a Department of Rheumatology   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTHRALGIA; CASE REPORT; CHROMOSOME 9; FEMALE; GENE MUTATION; GLAUCOMA; HUMAN; INTERPHALANGEAL JOINT; KNEE RADIOGRAPHY; LIMB PAIN; NAIL DYSPLASIA; NAIL PATELLA SYNDROME; NOTE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; URINALYSIS;

ADULT; FEMALE; HUMANS; NAIL-PATELLA SYNDROME; X-RAYS;

EID: 80053346012     PISSN: 10761608     EISSN: 15367355     Source Type: Journal    
DOI: 10.1097/RHU.0b013e31823272ed     Document Type: Note

References (6)

1. Al Balwi M, Steinberger D, Al Abdulkareem I, et al. Gene symbol: LMX1B. Disease: Nail-patella syndrome. Hum Genet. 2008;123:109-110.
2. Sweeney E, Fryer A, Mountford R, et al. Nail patella syndrome: A review of the phenotype aided by developmental biology. J Med Genet. 2003;40:153-162.
3. Meyrier A, Rizzo R, Gubler MC. The nail-patella syndrome. A review. J Nephrol. 1990;2:133-140.
4. Knoers NV, Bongers EM, van Beersum SE, et al. Nail-patella syndrome: Identification of mutations in the LMX1B gene in Dutch families. J Am Soc Nephrol. 2000;11:1762-1766.
5. Lemley KV. Kidney disease in nail-patella syndrome. Pediatr Nephrol. 2009;24:2345-2354.
6. Lichter PR, Richards JE, Downs CA, et al. Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol. 1997;124:506-515.