- Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome: Successful treatment of the first case with bilateral Wilms' tumors in Korea
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Min KS, Baek HJ, Han DK, You JH, Hwang TJ, Kwon DD, Kook H
- KMID: 1494529
- Korean J Pediatr.
- 2008 Dec;51(12):1355-1358.
- doi: 10.3345/kjp.2008.51.12.1355
Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is caused by deletion of chromosome 11p13, including the Wilms' tumor (WT1) and aniridia gene (PAX6) loci. Here, we report... -
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- Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome with deletion of chromosome 11p14.3p12
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Seo GH, Kim YM, Kim GH, Seo EJ, Choi JH, Lee BH, Yoo HW
- KMID: 2435972
- J Genet Med.
- 2018 Jun;15(1):38-42.
- doi: 10.5734/JGM.2018.15.1.38
WAGR (Wilms tumor, aniridia, genitourinary anomalies, and mental retardation) syndrome is a rare contiguous gene deletion syndrome caused by deleting genes including WT1 and PAX6 genes in 11p13 region, which... -
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- A nonsense PAX6 mutation in a family with congenital aniridia
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Han KH, Lee HJ, Ha IS, Kang HG, Cheong HI
- KMID: 2362243
- Korean J Pediatr.
- 2016 Nov;59(Suppl 1):S1-S4.
- doi: 10.3345/kjp.2016.59.11.S1
Congenital aniridia is a rare ocular malformation that presents with severe hypoplasia of the iris and various ocular manifestations. Most cases of congenital aniridia are known to be related to... -
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- A Case of 9.7 Mb Terminal Xp Deletion Including OA1 Locus Associated with Contiguous Gene Syndrome
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Cho EH, Kim SY, Kim JK
- KMID: 1778839
- J Korean Med Sci.
- 2012 Oct;27(10):1273-1277.
- doi: 10.3346/jkms.2012.27.10.1273
Terminal or interstitial deletions of Xp (Xp22.2-->Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill... -
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