No colobomas in "renal coloboma" syndrome [4] (multiple letters)

Ophthalmology

Volumn 110, Issue 2, 2003, Pages 251-252

  Parsa, Cameron F ^a   Goldberg, Morton F ^a   Hunter, David G ^a   Dureau, Pascal ^a  

^a NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AWARENESS; CILIARY ARTERY; CLINICAL FEATURE; COLOBOMA; COLOR ULTRASOUND FLOWMETRY; CONGENITAL MALFORMATION; DIAGNOSTIC ERROR; DIFFERENTIAL DIAGNOSIS; EYE DISEASE; FLUORESCENCE ANGIOGRAPHY; GENE MUTATION; GLAUCOMA; HUMAN; IMAGE ANALYSIS; LETTER; NOMENCLATURE; OPHTHALMOSCOPY; OPTIC DISK; OPTIC NERVE; PAPILLORENAL SYNDROME; PHENOTYPE; PRIORITY JOURNAL; PUBLICATION; RENAL COLOBOMA SYNDROME; RETINA ARTERY; RETINA DETACHMENT; RETINA MALFORMATION; RETINA VEIN; THEORY; VISUAL FIELD DEFECT;

EID: 0037314485     PISSN: 01616420     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0161-6420(02)01545-2     Document Type: Letter

References (5)

1. C.F. Parsa E.D. Silva O.H. Sundin Redefining papillorenal syndrome an underdiagnosed cause of ocular and renal morbidity Ophthalmology 108 2001 738 749
2. R.G. Weaver L.F. Cashwell W. Lorentz Optic nerve coloboma associated with renal disease Am J Med Genet 29 1988 597 605
3. P. Sanyanusin L.A. Schimmenti L.A. McNoe Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux [published erratum appears in Nat Genet 1996;13:129] Nat Genet 9 1995 358 364
4. L.A. Schimmenti H.E. Cunliffe L.A. McNoe Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations Am J Hum Genet 60 1997 869 878
5. B.C. Onwochei J.W. Simon J.B. Bateman Ocular colobomata Surv Ophthalmol 45 2000 175 194