Article
Diagnosis and genotype-phenotype correlation in patients with PKD1/TSC2 contiguous gene deletion syndrome.
Clinical nephrology - 1 Jun 2022
Shang Shunlai, Mei Yan, Wang Tao, Zheng Xinyi, Chen Keng, Xiong Shishi, Dong Yu, Chang Yuanyuan, Wu Xiaoyuan, Kong Xiangdong, Tan Mei, Wu Li, Zhang Yingjie, Xiao Yunming, Xie Yuansheng, Cai Guangyan, Chen Xiangmei, Li Qinggang
Abstract excerpt
Deletions involving the TSC2 and PKD1 genes lead to tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD), which is known as TSC2-PKD1 contiguous gene deletion syndrome (PKDTS). PKDTS leads to severe symptoms and death. There are few reported cases of PKDTS, the phenotypic descriptions are poor, and detailed statistics and descriptions of the time of onset and prognosis of...
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