A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Dimitrios T. Papadimitriou; Kleanthis Kleanthous; Emmanouil Manolakos; Anatoly Tiulpakov; Thomas Nikolopoulos; Alexandros Delides; Gerasimos Voros; Argyrios Dinopoulos; George Zoupanos; Anastasios Papadimitriou; Georgios Mastorakos; Fumihiko Urano

doi:10.1002/ccr3.2494

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Dimitrios T. Papadimitriou
, Kleanthis Kleanthous
, Emmanouil Manolakos
, Anatoly Tiulpakov
, Thomas Nikolopoulos
, Alexandros Delides
, Gerasimos Voros
, Argyrios Dinopoulos
, George Zoupanos
, Anastasios Papadimitriou
, Georgios Mastorakos
, Fumihiko Urano

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance.

Original language	English
Pages (from-to)	2355-2357
Number of pages	3
Journal	Clinical Case Reports
Volume	7
Issue number	12
DOIs	https://doi.org/10.1002/ccr3.2494
State	Published - Dec 1 2019

Keywords

WFS1 gene
Wolfram syndrome
diabetes insipidus
diabetes mellitus
novel mutation

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10.1002/ccr3.2494

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Papadimitriou, D. T., Kleanthous, K., Manolakos, E., Tiulpakov, A., Nikolopoulos, T., Delides, A., Voros, G., Dinopoulos, A., Zoupanos, G., Papadimitriou, A., Mastorakos, G., & Urano, F. (2019). A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus. Clinical Case Reports, 7(12), 2355-2357. https://doi.org/10.1002/ccr3.2494

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abstract = "Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance.",

keywords = "WFS1 gene, Wolfram syndrome, diabetes insipidus, diabetes mellitus, novel mutation",

author = "Papadimitriou, \{Dimitrios T.\} and Kleanthis Kleanthous and Emmanouil Manolakos and Anatoly Tiulpakov and Thomas Nikolopoulos and Alexandros Delides and Gerasimos Voros and Argyrios Dinopoulos and George Zoupanos and Anastasios Papadimitriou and Georgios Mastorakos and Fumihiko Urano",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors. Clinical Case Reports published by John Wiley \& Sons Ltd",

year = "2019",

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day = "1",

doi = "10.1002/ccr3.2494",

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Papadimitriou, DT, Kleanthous, K, Manolakos, E, Tiulpakov, A, Nikolopoulos, T, Delides, A, Voros, G, Dinopoulos, A, Zoupanos, G, Papadimitriou, A, Mastorakos, G & Urano, F 2019, 'A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus', Clinical Case Reports, vol. 7, no. 12, pp. 2355-2357. https://doi.org/10.1002/ccr3.2494

TY - JOUR

T1 - A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

AU - Papadimitriou, Dimitrios T.

AU - Kleanthous, Kleanthis

AU - Manolakos, Emmanouil

AU - Tiulpakov, Anatoly

AU - Nikolopoulos, Thomas

AU - Delides, Alexandros

AU - Voros, Gerasimos

AU - Dinopoulos, Argyrios

AU - Zoupanos, George

AU - Papadimitriou, Anastasios

AU - Mastorakos, Georgios

AU - Urano, Fumihiko

PY - 2019/12/1

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N2 - Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance.

AB - Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status—maintaining quality of life—are of crucial importance.

KW - WFS1 gene

KW - Wolfram syndrome

KW - diabetes insipidus

KW - diabetes mellitus

KW - novel mutation

UR - https://www.scopus.com/pages/publications/85074612817

U2 - 10.1002/ccr3.2494

DO - 10.1002/ccr3.2494

M3 - Article

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AN - SCOPUS:85074612817

SN - 2050-0904

VL - 7

SP - 2355

EP - 2357

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 12

ER -

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus

Abstract

Keywords

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