Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome - 09/11/15

D.T. Papadimitriou ^{a, ⁎, i} , E. Manolakos ^{f, g}, C. Bothou ^h, G. Zoupanos ^b, I. Papoulidis ^f, S. Orru ^g, F. Skarmoutsos ^d, A. Delides ^e, C. Bakoula ^c, A. Papadimitriou ⁱ, F. Urano ^j

^a Department of Pediatric Endocrinology and Diabetes, Athens Medical Center, 58, av. Kifissias, 15125 Maroussi, Athens, Greece 

^b Department of Pediatric Urology, Athens Medical Center, Athens, Greece 

^c Department of Pediatrics, Athens Medical Center, Athens, Greece 

^d Department of Pediatric Opthalmology, Athens Medical center, Athens, Greece 

^e Department of Pediatric Otorhinolaryngology, Athens Medical center, Athens, Greece 

^f Access to Genome, Athens-Thessaloniki, Greece 

^g Department of Medical Genetics, University of Cagliari, Binaghi hospital, Cagliari, Italy 

^h Medical School, Athens University, Athens, Greece 

ⁱ Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece 

^j Washington University School of Medicine, Saint-Louis, MO, USA 

^⁎Corresponding author.

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