التفاصيل البيبلوغرافية
| العنوان: |
Wolfram syndrome type 1: a case series |
| المؤلفون: |
Danyang Du, Aihemaitijiang Tuhuti, Yanrong Ma, Munila Abuduniyimu, Suli Li, Guoying Ma, Jazyra Zynat, Yanying Guo |
| المصدر: |
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023) |
| بيانات النشر: |
BMC, 2023. |
| سنة النشر: |
2023 |
| المجموعة: |
LCC:Medicine |
| مصطلحات موضوعية: |
Wolfram syndrome, WFS1 gene, Diabetic mellitus, Genetic testing, Medicine |
| الوصف: |
Abstract Background Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life. Results Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes. Conclusions The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease. |
| نوع الوثيقة: |
article |
| وصف الملف: |
electronic resource |
| اللغة: |
English |
| تدمد: |
1750-1172 |
| Relation: |
https://doaj.org/toc/1750-1172 |
| DOI: |
10.1186/s13023-023-02938-5 |
| URL الوصول: |
https://doaj.org/article/409f2af6c2624686b6e701cc8648f312 |
| رقم الانضمام: |
edsdoj.409f2af6c2624686b6e701cc8648f312 |
| قاعدة البيانات: |
Directory of Open Access Journals |
Full Text Finder