Article
Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases.
Genes - 12 Aug 2022
Wang Qiwei, Zhang Xulin, Qin Tingfeng, Wang Dongni, Lin Xiaoshan, Zhu Yuanyuan, Tan Haowen, Zhao Lanqin, Li Jing, Lin Zhuoling, Lin Haotian, Chen Weirong
Abstract excerpt
The deletion of chromosome 11p13 involving the WT1 and PAX6 genes has been shown to cause WAGR syndrome (OMIM #194072), a rare genetic disorder that features Wilms' tumor, aniridia, genitourinary anomalies, as well as mental retardation. In this study, we expand the genotypic and phenotypic spectrum of WAGR syndrome by reporting on six patients from six unrelated families with different de novo deletions located...
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