Renal coloboma syndrome
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg2011102.pdf
Reference52 articles.
1. Weaver RG, Cashwell LF, Lorentz W, Whiteman D, Geisinger KR, Ball M : Optic nerve coloboma associated with renal disease. Am J Med Genet 1988; 29: 597–605.
2. Sanyanusin P, Schimmenti LA, McNoe LA et al: Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux. Nat Genet 1995; 9: 358–364.
3. Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB : Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies. Am J Med Genet 1995; 59: 204–208.
4. Sanyanusin P, McNoe LA, Sullivan MJ, Weaver RG, Eccles MR : Mutation of PAX2 in two siblings with renal-coloboma syndrome. Hum Mol Genet 1995; 4: 2183–2184.
5. Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter III R : Renal-coloboma syndrome: report of a novel PAX2 gene mutation. Am J Ophthalmol 2001; 132: 910–914.
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