A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report-Reference-Cited by-同舟云学术

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A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report

Published:2018-03-17 Issue:1 Volume:18 Page:
ISSN:1471-2431
Container-title:BMC Pediatrics
language:en
Short-container-title:BMC Pediatr

Author:

Li Min,Liu Jia,Yi Huan,Xu Li,Zhong Xiufeng,Peng Fuhua

Funder

National Science Foundation of Guangdong Province

Science & Technology Project of Guangzhou

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Link

http://link.springer.com/content/pdf/10.1186/s12887-018-1091-1.pdf

Reference14 articles.

1. Barrett TG, Bundey SE, Macleod AF. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome. Lancet. 1995;346:1458–63.

2. Marshall BA, Permutt MA, Paciorkowski AR, Hoekel J, Karzon R, Wasson J, et al. Phenotypic characteristics of early Wolfram syndrome. Orphanet J Rare Dis. 2013;8:64. https://doi.org/10.1186/1750-1172-8-64 .

3. Chaussenot A, Bannwarth S, Rouzier C, Vialettes B, Mkadem SA, Chabrol B, et al. Neurologic features and genotype-phenotype correlation in Wolfram syndrome. Ann Neurol. 2011;69:501–8. https://doi.org/10.1002/ana.22160 .

4. Rigoli L, Di Bella C. Wolfram syndrome 1 and Wolfram syndrome 2. Curr Opin Pediatr. 2012;24:512–7. https://doi.org/10.1097/MOP.0b013e328354ccdf .

5. Takeda K, Inoue H, Tanizawa Y, Matsuzaki Y, Oba J, Watanabe Y, et al. Wfs1 (Wolfram syndrome 1) gene product: predominant subcellular localization to endoplasmic reticulum in cultured cells and neuronal expression in rat brain. Hum Mol Genet. 2001;10:47–84.

Cited by 3 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report;Journal of Medical Case Reports;2023-09-27

2. Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome;BMC Endocrine Disorders;2021-08-17

3. Diabetes mellitus types: Key genetic determinants and risk assessment;GENET MOL RES;2019

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