Unusual Presentation in WAGR Syndrome: Expanding the Phenotypic and Genotypic Spectrum of the Diseases

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...

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Detalles Bibliográficos
Autores principales: Wang, Qiwei, Zhang, Xulin, Qin, Tingfeng, Wang, Dongni, Lin, Xiaoshan, Zhu, Yuanyuan, Tan, Haowen, Zhao, Lanqin, Li, Jing, Lin, Zhuoling, Lin, Haotian, Chen, Weirong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9408430/
https://www.ncbi.nlm.nih.gov/pubmed/36011342
http://dx.doi.org/10.3390/genes13081431

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