Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome

Diabetes Metab. 2015 Nov;41(5):433-5. doi: 10.1016/j.diabet.2015.06.003. Epub 2015 Jul 10.

¹ Department of Pediatric Endocrinology and Diabetes, Athens Medical Center, 58, av. Kifissias, 15125 Maroussi, Athens, Greece; Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece. Electronic address: [email protected].
² Access to Genome, Athens-Thessaloniki, Greece; Department of Medical Genetics, University of Cagliari, Binaghi hospital, Cagliari, Italy.
³ Medical School, Athens University, Athens, Greece.
⁴ Department of Pediatric Urology, Athens Medical Center, Athens, Greece.
⁵ Access to Genome, Athens-Thessaloniki, Greece.
⁶ Department of Medical Genetics, University of Cagliari, Binaghi hospital, Cagliari, Italy.
⁷ Department of Pediatric Opthalmology, Athens Medical center, Athens, Greece.
⁸ Department of Pediatric Otorhinolaryngology, Athens Medical center, Athens, Greece.
⁹ Department of Pediatrics, Athens Medical Center, Athens, Greece.
¹⁰ Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece.
¹¹ Washington University School of Medicine, Saint-Louis, MO, USA.

No abstract available

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