Article
WAGR syndrome and congenital hypothyroidism in a child with a Mosaic 11p13 deletion.
American journal of medical genetics. Part A - 1 Jun 2017
Huynh Minh Tuan, Boudry-Labis Elise, Duban Bénédicte, Andrieux Joris, Tran Cong Toai, Tampere Heidi, Ceraso Delphine, Manouvrier Sylvie, Tachdjian Gérard, Roche-Lestienne Catherine, Vincent-Delorme Catherine
Abstract excerpt
Wilm's tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome, a rare genetic disorder, is caused by the loss of 11p13 region including PAX6 and WT1. We report novel findings in a 28-month-old boy with aniridia, Wilm's tumor, congenital hypothyroidism, and sublingual thyroid ectopia. He was found to have a mosaic 5.28 Mb interstitial deletion of chromosome 11p13 deleting PAX6 and WT1. In...
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