Wolfram Syndrome: New Mutations, Different Phenotype-Reference-Cited by-同舟云学术

Wolfram Syndrome: New Mutations, Different Phenotype

Published:2012-01-04 Issue:1 Volume:7 Page:e29150
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Aloi Concetta,Salina Alessandro,Pasquali Lorenzo,Lugani Francesca,Perri Katia,Russo Chiara,Tallone Ramona,Ghiggeri Gian Marco,Lorini Renata,d'Annunzio Giuseppe

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference44 articles.

1. Diabetes mellitus and simple optic atrophy among siblings. A report of four cases.;DJ Wolfram;Proc Mayo Clin,1938

2. Diabetes insipidus, diabetes mellitus, optic atrophy and deafness (DIDMOAD) caused by mutations in a novel gene (Wolframin) coding for a predicted transmembrane protein.;TM Strom;Hum Mol Genet,1998

3. Wolfram syndrome: important implications for pediatricians and pediatric endocrinologists.;S Kumar;Pediatr Diabetes,2010

4. Neurodegeneration and diabetes: UK nationwide study of Wolfram (DIDMOAD) syndrome.;TG Barrett;Lancet,1995

5. Primary diagnosis of Wolfram syndrome in an adult patient-case report and description of a novel pathogenic mutation.;A Waschbisch;J Neurol Sci,2011

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