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84 P-3-712 : A Novel Compound Heterozygous Mutation in an Adolescent with Insulin-dependent Diabetes: A Case Report of Wolfram Syndrome

Researchers

Presenter

  • Giulio Maltoni

Principal Investigators

  • Vilma Mantovani

  • Stefano Zucchini

  • Carlotta Pia Cristalli

  • Raffaella Minardi

  • Laura Mazzanti

Medical Centers

  • Genetic Medicine Unit, University H. S.Orsola-Malpighi, Bologna, Italy

  • Endocrine Unit, Department of Pediatrics, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy

  • Department of Experimental, Diagnostic and Specialty Medicine. University of Bologna, Bologna, Italy.

  • CRBA, University H. S.Orsola-Malpighi, Bologna, Italy

Locations

  • Italy

Companies

  • N/A

Study Components

Therapeutic Area

  • Genetic Disorder

  • Endocrine/metabolic Diseases (ME)

Disease

  • Type 1 diabetes mellitus

  • Neurohypophyseal diabetes insipidus

  • Diabetes

  • Wolfram syndrome

  • Autosomal dominant optic atrophy

  • Maturity onset diabetes of the young

Biomarkers

  • Hemoglobin A1c

Drug/Treatment

  • EXON 8

Outcome

  • N/A

Study Design

  • N/A

Phase

  • NA

Study Id's

  • N/A

Sponsors

  • N/A

Result

  • Final

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