Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children-Reference-Cited by-全球学者库

Multi‐centre study of the clinical features and gene variant spectrum of Gitelman syndrome in Chinese children

Published:2021-02-02 Issue:4 Volume:99 Page:558-564
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Shen Qian¹^ORCID,Chen Jiemei²³,Yu Minghui¹,Lin Zhi³⁴,Nan Xiaojuan²,Dong Beijun²,Fang Xiaoyan¹,Chen Jing¹,Ding Guixia⁵,Zhang Aihua⁵^ORCID,Gao Chunlin⁶,Miao Li⁷,Xu Yuanyuan⁸,Jiang Xiaoyun⁸,Bai Haitao⁹,Zhuang Jieqiu¹⁰,Gao Xiaojie²,Xu Hong¹,

Affiliation:

1. Department of Nephrology Children's Hospital of Fudan University Shanghai China

2. Department of Nephrology Shenzhen Children's Hospital Shenzhen Guangdong China

3. International Pediatric Nephrology Association (IPNA) fellow at Department of Nephrology Children's Hospital of Fudan University Shanghai China

4. Department of Pediatrics Xiangya Hospital, Central South University Changsha Hunan China

5. Department of Nephrology Children's Hospital of Nanjing Medical University Nanjing China

6. Department of Pediatrics Jinling Hospital Nanjing China

7. Department of Pediatrics The First Affiliated Hospital of Kangda College of Nanjing Medical University/The First People's Hospital of Lianyungang Lianyungang China

8. Department of Pediatrics The First Affiliated Hospital of Sun Yat‐sen University Guangzhou China

9. Department of Pediatrics The First Affiliated Hospital of Xiamen University Xiamen China

10. Department of Nephrology The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University Zhejiang China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13913

Reference17 articles.

1. Gitelman's variant of Barter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na–Cl cotransporter

2. Gitelman's syndrome revisited: An evaluation of symptoms and health-related quality of life

3. Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration system

4. Spectrum of Mutations in Gitelman Syndrome

5. Mutation profile and treatment of Gitelman syndrome in Chinese patients

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1. A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature;CEN Case Reports;2024-02-03

2. Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review;BMC Nephrology;2023-05-02

3. CRISPR-Cas9-Mediated Correction of SLC12A3 Gene Mutation Rescues the Gitelman’s Disease Phenotype in a Patient-Derived Kidney Organoid System;International Journal of Molecular Sciences;2023-02-03

4. R158Q and G212S, novel pathogenic compound heterozygous variants in SLC12A3 of Gitelman syndrome;Frontiers of Medicine;2022-11-12

5. Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome;Journal of the American Society of Nephrology;2022-11-09