A novel <i>WFS1</i> variant associated with severe diabetic retinopathy in Wolfram syndrome type 1-Reference-Cited by-同舟云学术

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A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1

Published:2022-09-12 Issue: Volume: Page:1-9
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Maamouri Rym¹²,Hizem Syrine²³^ORCID,Kammoun Ines²⁴,Elaribi Yasmina²³,Rejeb Imen³,Sebai Molka²³,Jilani Houweyda²³,Rouzier Cécile⁵,Cheour Monia¹²,Paquis-Flucklinger Véronique⁵,Ben Jemaa Lamia²³

Affiliation:

1. Department of Ophthalmology, Habib Thameur hospital, Tunis, Tunisia

2. Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia

3. Department of congenital and hereditary diseases, Mongi Slim hospital, La Marsa, Tunis, Tunisia

4. Department of endocrinology and metabolic diseases, National Institute “Zouhair Kallel” of Nutrition, Tunis, Tunisia

5. Department of Medical Genetics, National Center for Mitochondrial Diseases, Nice Teaching Hospital, Nice, France

Funder

no funding

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2022.2113546

Reference63 articles.

1. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome

2. Diabetes Mellitus and Optic Atrophy: A Study of Wolfram Syndrome in the Lebanese Population

3. Phenotypical and genotypical expression of Wolfram syndrome in 12 patients from a Sicilian district where this syndrome might not be so infrequent as generally expected

4. Wolfram Syndrome: Diagnosis, Management, and Treatment

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