Mutation update and uncommon phenotypes in a French cohort of 96 patients withWFS1-related disorders

Author:

Chaussenot A.12,Rouzier C.12,Quere M.1,Plutino M.1,Ait-El-Mkadem S.12,Bannwarth S.12,Barth M.3,Dollfus H.4,Charles P.5,Nicolino M.6,Chabrol B.7,Vialettes B.8,Paquis-Flucklinger V.12

Affiliation:

1. Department of Medical Genetics, National Centre for Mitochondrial Diseases; Nice Teaching Hospital; Nice France

2. IRCAN UMR CNRS 7284/INSERM U1081/UNS, School of Medicine; Nice Sophia-Antipolis University; Nice France

3. Department of Biochemistry and Genetics; Angers University Hospital; Angers France

4. Department of Medical Genetics; EA INSERM 3949; Strasbourg France

5. Department of Genetics, Pitié-Salpêtrière hospital; Pierre and Marie Curie University; Paris France

6. Pediatric Endocrinology, Diabetology and Metabolic Diseases Department; Mère-Enfant Hospital; Lyon France

7. Neuropaediatrics and Metabolic Diseases Department; Timone Hospital; Marseille France

8. Nutrition, Metabolic Diseases and Endocrinology Department; Timone Hospital; Marseille France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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