Analyzing three pedigrees in X-linked Alport syndrome with the presentation of nephrotic syndrome by Jian-Hui Zhang, Jian-Hui Zhang, Jie Liu, Jie Liu, Dan-Dan Ruan, Dan-Dan Ruan, Qian Chen, Qian Chen, Jie Yang, Jie Yang, Min Wu, Min Wu, Hong-Ping Yu, Hong-Ping Yu, Li-Sheng Liao, Li-Sheng Liao, Xiao-Ling Zheng, Xiao-Ling Zheng, Jie-Wei Luo, Li Zhang, Li Zhang

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Mutational Analysis of a Familial Adenomatous Polyposis Pedigree with Bile Duct Polyp Phenotype by Li-jun Xie, Dan-dan Ruan, Jian-hui Zhang, Yi Li, Li Chen, Mao-lin Yan, Ming-dian Yu, Jie-wei Luo, Hui-zhen Zhang

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A rare concurrence of acute tubular necrosis and chronic glomerular sclerosis in a patient with wasp stings by Jian-hui Zhang, Jing Zou, Dan-dan Ruan, Qian Chen, Min Wu, Hong-ping Yu, Qiu-yan Wu, Fan Lin, Jie-wei Luo, Li Zhang

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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A by Yao-Bin Zhu, Jian-Hui Zhang, Yuan-Yuan Ji, Ya-Nan Hu, Han-Lu Wang, Dan-Dan Ruan, Xiao-Rong Meng, Xin-Fu Lin, Jie-Wei Luo, Wei Chen

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A novel splicing mutation DNAH5 c.13,338 + 5G > C is involved in the pathogenesis of primary ciliary dyskinesia in a family with primary familial brain calcification by Xiu-juan Yao, Qian Chen, Hong-ping Yu, Dan-dan Ruan, Shi-jie Li, Min Wu, Li-sheng Liao, Xin-fu Lin, Zhu-ting Fang, Jie-wei Luo, Bao-song Xie

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Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription by Yu-mian Gan, Yan-ping Zhang, Dan-dan Ruan, Jian-bin Huang, Yao-bin Zhu, Xin-fu Lin, Xiao-ping Xiao, Qiong Cheng, Zhen-bo Geng, Li-sheng Liao, Fa-qiang Tang, Jie-wei Luo

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A Primary Extraskeletal Osteosarcoma of the Spleen: Rare Case Report by Xian Pan, Xian Pan, Han-Lu Wang, Shi-Ming Lin, Jia-Li Lin, Dan-Dan Ruan, Jian-Hui Zhang, Ting Chen, Ting Chen, Jie-Wei Luo, Jie-Wei Luo, Zhu-Ting Fang, Zhu-Ting Fang

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Pharmarcomechanical thrombectomy combined with transluminal balloon angioplasty for treating transplant renal vein thrombosis by Shao-Jie Wu, Chi Zhang, Min Wu, Dan-dan Ruan, Yan-ping Zhang, Bin Lin, Yi Tang, Xin Chen, Chen Wang, Hong-hong Pan, Qing-guo Zhu, Jie-wei Luo, Lie-fu Ye, Zhu-ting Fang

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Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis by Shi-jie Li, Dan-dan Ruan, Wei-zhen Wu, Min Wu, Qiu-yan Wu, Han-lu Wang, Yuan-yuan Ji, Yan-ping Zhang, Xin-fu Lin, Zhu-ting Fang, Li-sheng Liao, Jie-wei Luo, Mei-zhu Gao, Jia-bin Wu

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Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency by Han-lu Wang, Dan-dan Ruan, Min Wu, Yuan-yuan Ji, Xing-xing Hu, Qiu-yan Wu, Yan-ping Zhang, Bin Lin, Ya-nan Hu, Hang Wang, Yi Tang, Zhu-ting Fang, Jie-wei Luo, Li-sheng Liao, Mei-zhu Gao

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Author Correction: Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation by Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation by Dan-dan Ruan, Xing-lin Ruan, Ruo‑li Wang, Xin-fu Lin, Yan-ping Zhang, Bin Lin, Shi-jie Li, Min Wu, Qian Chen, Jian-hui Zhang, Qiong Cheng, Yi-wu Zhang, Fan Lin, Jie-wei Luo, Zheng Zheng, Yun-fei Li

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Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant by Ruo-li Wang, Ruo-li Wang, Ruo-li Wang, Dan-dan Ruan, Ya-nan Hu, Yu-mian Gan, Xin-fu Lin, Xin-fu Lin, Zhu-ting Fang, Zhu-ting Fang, Li-sheng Liao, Li-sheng Liao, Fa-qiang Tang, Fa-qiang Tang, Wu-bing He, Wu-bing He, Wu-bing He, Jie-wei Luo, Jie-wei Luo

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In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism by Dan-dan Ruan, Jing Zou, Li-sheng Liao, Li-sheng Liao, Ming-dong Ji, Ruo-li Wang, Ruo-li Wang, Jian-hui Zhang, Li Zhang, Li Zhang, Mei-zhu Gao, Mei-zhu Gao, Qian Chen, Hong-ping Yu, Wen Wei, Yun-fei Li, Yun-fei Li, Hong Li, Fan Lin, Fan Lin, Jie-wei Luo, Xin-fu Lin, Xin-fu Lin

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