title: Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome.
authors.affiliation: 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: info@pedoendo.gr.
authors.forename: D T
authors.initials: DT
authors.lastname: Papadimitriou
authors.affiliation: Access to Genome, Athens-Thessaloniki, Greece; Department of Medical Genetics, University of Cagliari, Binaghi hospital, Cagliari, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Manolakos
authors.affiliation: Medical School, Athens University, Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Bothou
authors.affiliation: Department of Pediatric Urology, Athens Medical Center, Athens, Greece.
authors.forename: G
authors.initials: G
authors.lastname: Zoupanos
authors.affiliation: Access to Genome, Athens-Thessaloniki, Greece.
authors.forename: I
authors.initials: I
authors.lastname: Papoulidis
authors.affiliation: Department of Medical Genetics, University of Cagliari, Binaghi hospital, Cagliari, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Orru
authors.affiliation: Department of Pediatric Opthalmology, Athens Medical center, Athens, Greece.
authors.forename: F
authors.initials: F
authors.lastname: Skarmoutsos
authors.affiliation: Department of Pediatric Otorhinolaryngology, Athens Medical center, Athens, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Delides
authors.affiliation: Department of Pediatrics, Athens Medical Center, Athens, Greece.
authors.forename: C
authors.initials: C
authors.lastname: Bakoula
authors.affiliation: Pediatric Endocrine Unit, Attikon University Hospital, Athens, Greece.
authors.forename: A
authors.initials: A
authors.lastname: Papadimitriou
authors.affiliation: Washington University School of Medicine, Saint-Louis, MO, USA.
authors.forename: F
authors.initials: F
authors.lastname: Urano
mesh_terms: D050034:Antidiuretic Agents / Q000627:therapeutic use; D002648:Child; D002894:Chromosomes, Human, Pair 4; D003894:Deamino Arginine Vasopressin / Q000627:therapeutic use; D003919:Diabetes Insipidus / Q000175:diagnosis / Q000209:etiology; D005192:Family Health; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology; D006720:Homozygote; D006801:Humans; D006869:Hydronephrosis / Q000209:etiology / Q000517:prevention & control; D008565:Membrane Proteins / Q000235:genetics*; D009035:Mothers; D009154:Mutation; D016896:Treatment Outcome; D024182:Uniparental Disomy / Q000235:genetics* / Q000503:physiopathology; D001750:Urinary Bladder, Neurogenic / Q000188:drug therapy / Q000209:etiology* / Q000503:physiopathology; D014929:Wolfram Syndrome / Q000235:genetics* / Q000503:physiopathology
chemical_list: D050034:Antidiuretic Agents; D008565:Membrane Proteins; C114987:wolframin protein; D003894:Deamino Arginine Vasopressin