Publications by authors named "Shuangzhu Lin"

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frameshift mutation in SYNGAP1 resulting in autosomal dominant mental retardation type 5 and autism spectrum disorder: a case report.
Shuangzhu Lin, Yangfan Qi, Hongyan Xie, Xiaoyu Sun, Wanqi Wang

Front Pediatr· November 2025

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missense mutation in leading to autosomal dominant intellectual disability 39 and autism spectrum disorder: a case report.
Xin Wang, Shuangzhu Lin, Yang Chen, Yangfan Qi, Xiaoyu Sun

Front Pediatr· November 2025

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Idiopathic isolated adrenocorticotropic hormone deficiency combined with testicular germ cell tumor: Case report.
Ming Yang, Shuangzhu Lin, Dongting Fu, Yu Wang, Siyu Lu

Medicine (Baltimore)· October 2025

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Phelan-McDermid syndrome in a Chinese pediatric patient: A case report - new heterozygous mutations lead to PMS.
Shuangzhu Lin, XiaoYu Sun, Ying Zhou, ZiXuan Ding, Kai Jiang

Medicine (Baltimore)· September 2025

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Case Report: Novel variants cause atypical adenosine deaminase 2 deficiency.
Haishao Yu, Shuangzhu Lin, Lin Li, Jiayi Li, Qiandui Chen

Front Genet· January 2025

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Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report.
Jiayi Li, Shuangzhu Lin, Qiong Wu, Jinhua Feng, Qiandui Chen

Medicine (Baltimore)· December 2023

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Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report.
Jialing Liu, Shuangzhu Lin, Shihui Guan, Qiandui Chen, Xinyao Wang

Medicine (Baltimore)· December 2023

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Retinitis pigmentosa with or without skeletal abnormalities due to homozygous mutations in the CWC27 gene: A case report.
Yang-Fan Qi, Xiaoping Ma, Shuang-Zhu Lin, Wan-Qi Wang, Jia-Yi Li

Medicine (Baltimore)· December 2023

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Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report.
Suli Zhang, Shuangzhu Lin, Wanqi Wang, Yuru Gan, Cui Wang

Acta Epileptol· November 2023

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A case of Sandhoff disease caused by a novel β-hexosaminidase B (HEXB) mutation c.118delG (p.A40fs*24): A case report from China.
Hongyan Xie, Shuangzhu Lin, Yang Chen, Wanqi Wang, Yangfan Qi

Medicine (Baltimore)· June 2023

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Eosinophilic granuloma of the clavicle in an 11-year-old Chinese girl: A case report.
Qian-Dui Chen, Shuang-Zhu Lin, Jie Zhou, Xiao-Xiao Chen, Rui-Tong Yang

Medicine (Baltimore)· June 2023

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A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.
Xiao-Hui Wu, Shuang-Zhu Lin, Zhen-Xian Liu, Yang-Fan Qi, Wan-Qi Wang

Medicine (Baltimore)· May 2023

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A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report.
Meijia Qian, Shuangzhu Lin, Yangyang Tan, Qiandui Chen, Wanqi Wang

Medicine (Baltimore)· April 2023

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Thyroid hormone resistance resulting from a novel mutation in the THRB gene in a Chinese child: A case report.
Jinhua Feng, Shuangzhu Lin, Wei Wang, Qiandui Chen, Wanqi Wang

Medicine (Baltimore)· April 2023

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Aicardi-Goutières syndrome type 7 in a Chinese child: A case report.
Shuang-Zhu Lin, Jing-Jing Yang, Tian-Long Xie, Jia-Yi Li, Jia-Qi Ma

World J Clin Cases· April 2023

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Children with infectious pneumonia caused by : A case report.
Shuang-Zhu Lin, Mei-Jia Qian, Yan-Wei Wang, Qian-Dui Chen, Wan-Qi Wang

World J Clin Cases· March 2023

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Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report.
Shuang-Zhu Lin, Qi-Ji Ma, Qi-Ming Pang, Qian-Dui Chen, Wan-Qi Wang

World J Clin Cases· November 2022

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A randomized, double-blind, placebo-controlled multicenter clinical trial of Xiehuang Jiejing granule in the treatment of cough variant asthma in children.
Yi-Na Qiao, Shuang-Zhu Lin, Xiao-Zheng Duan, Ming-Hang Yang, Xiao-Fang Zhang

Medicine (Baltimore)· November 2022

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Retroperitoneal leiomyoma located in the broad ligament: A case report.
Xue-Song Zhang, Shuang-Zhu Lin, Yu-Jiao Liu, Lei Zhou, Qian-Dui Chen

World J Clin Cases· November 2022

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Two novel mutations in the gene in a Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome 1: A case report.
Hui Yang, Shuang-Zhu Lin, Shi-Hui Guan, Wan-Qi Wang, Jia-Yi Li

World J Clin Cases· October 2022

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Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C.
Suli Zhang, Shuangzhu Lin, Zhenxian Liu, Wanqi Wang, Jiayi Li

Front Pediatr· August 2022

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gene mutation leading to overall developmental delay in a child with epilepsy: A case report.
Xiao-Hui Wu, Shuang-Zhu Lin, Yan-Qiu Zhou, Wan-Qi Wang, Jia-Yi Li

World J Clin Cases· August 2022

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Novel frameshift mutation in the gene in a Chinese global developmental delay patient: A case report.
Shuang-Zhu Lin, Hong-Yan Xie, Yan-Lai Qu, Wen Gao, Wan-Qi Wang

World J Clin Cases· July 2022

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Clinical manifestations and gene analysis of Hutchinson-Gilford progeria syndrome: A case report.
Su-Li Zhang, Shuang-Zhu Lin, Yan-Qiu Zhou, Wan-Qi Wang, Jia-Yi Li

World J Clin Cases· May 2022

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Novel compound heterozygous variants in the gene in a patient with Alazami-Yuan syndrome: A case report.
Shuang-Zhu Lin, Jin-Hua Feng, Li-Ping Sun, Hong-Wei Ma, Wan-Qi Wang

World J Clin Cases· February 2022

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