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

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Bibliographic Details
Published inDiabetes & metabolism Vol. 41; no. 5; pp. 433 - 435
Main Authors Papadimitriou, D.T, Manolakos, E, Bothou, C, Zoupanos, G, Papoulidis, I, Orru, S, Skarmoutsos, F, Delides, A, Bakoula, C, Papadimitriou, A, Urano, F
Format Journal Article
LanguageEnglish
Published France Elsevier Masson SAS 01.11.2015
Subjects
Antidiuretic Agents - therapeutic use
Child
Chromosomes, Human, Pair 4
Deamino Arginine Vasopressin - therapeutic use
Diabetes Insipidus - diagnosis
Diabetes Insipidus - etiology
Endocrinology & Metabolism
Family Health
Female
Hearing Loss, Sensorineural - diagnosis
Hearing Loss, Sensorineural - etiology
Homozygote
Humans
Hydronephrosis - etiology
Hydronephrosis - prevention & control
Internal Medicine
Membrane Proteins - genetics
Mothers
Mutation
Treatment Outcome
Uniparental Disomy - genetics
Uniparental Disomy - physiopathology
Urinary Bladder, Neurogenic - drug therapy
Urinary Bladder, Neurogenic - etiology
Urinary Bladder, Neurogenic - physiopathology
Wolfram Syndrome - genetics
Wolfram Syndrome - physiopathology
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ISSN:1262-3636
1878-1780
DOI:10.1016/j.diabet.2015.06.003