A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report-Reference-Cited by-同舟云学术

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A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report

Published:2016-12-01 Issue:4 Volume:8 Page:482-483
ISSN:1308-5727
Container-title:Journal of Clinical Research in Pediatric Endocrinology
language:
Short-container-title:Jcrpe

Author:

Prochazkova Dagmar,Hruba Zuzana,Konecna Petra,Skotakova Jarmila,Fajkusova Lenka

Publisher

Galenos Yayinevi

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

http://cms.galenos.com.tr/FileIssue/1/1093/article/482-483.pdf

Cited by 9 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. Cornea and Sclera;Ocular Pathology;2025

2. Delineating Wolfram-like syndrome: A systematic review and discussion of the WFS1-associated disease spectrum;Survey of Ophthalmology;2023-07

3. Multimorbidity due to novel pathogenic variants in theWFS1/RP1/NOD2genes: autosomal dominant congenital lamellar cataract, retinitis pigmentosa and Crohn’s disease in a British family;BMJ Open Ophthalmology;2023-07

4. A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy;The Egyptian Journal of Neurology, Psychiatry and Neurosurgery;2023-01-16

5. The mutation spectrum in familial versus sporadic congenital cataract based on next-generation sequencing;BMC Ophthalmology;2020-09-03

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