Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro)

Author:

Yuca Sevil Ari,Rendtorff Nanna Dahl,Boulahbel Houda,Lodahl Marianne,Tranebjærg Lisbeth,Cesur Yasar,Dogan Murat,Yilmaz Cahide,Akgun Cihangir,Acikgoz Mehmet

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference40 articles.

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2. Wolfram (DIDMOAD) syndrome;Barrett;J. Med. Genet.,1997

3. WFS1/wolframin mutations, Wolfram syndrome, and associated diseases;Khanim;Hum. Mutat.,2001

4. Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4;Polymeropoulos;Nat. Genet.,1994

5. A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome);Inoue;Nat. Genet.,1998

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3. Urinary Tract Involvement in Wolfram Syndrome: A Narrative Review;International Journal of Environmental Research and Public Health;2021-11-15

4. Identification of Three Novel and One Known Mutation in the WFS1 Gene in Four Unrelated Turkish Families: The Role of Homozygosity Mapping in the Early Diagnosis;Journal of Clinical Research in Pediatric Endocrinology;2021-02-26

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