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

D. T. Papadimitriou; E. Manolakos; C. Bothou; G. Zoupanos; I. Papoulidis; S. Orru; F. Skarmoutsos; A. Delides; C. Bakoula; A. Papadimitriou; F. Urano

doi:10.1016/j.diabet.2015.06.003

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

D. T. Papadimitriou, E. Manolakos, C. Bothou, G. Zoupanos, I. Papoulidis, S. Orru, F. Skarmoutsos, A. Delides, C. Bakoula, A. Papadimitriou, F. Urano

Research output: Contribution to journal › Letter

5 Scopus citations

Original language	English
Pages (from-to)	433-435
Number of pages	3
Journal	Diabetes and Metabolism
Volume	41
Issue number	5
DOIs	https://doi.org/10.1016/j.diabet.2015.06.003
State	Published - Nov 2015

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10.1016/j.diabet.2015.06.003

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Papadimitriou, D. T., Manolakos, E., Bothou, C., Zoupanos, G., Papoulidis, I., Orru, S., Skarmoutsos, F., Delides, A., Bakoula, C., Papadimitriou, A., & Urano, F. (2015). Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. Diabetes and Metabolism, 41(5), 433-435. https://doi.org/10.1016/j.diabet.2015.06.003

Papadimitriou, D. T. ; Manolakos, E. ; Bothou, C. ; Zoupanos, G. ; Papoulidis, I. ; Orru, S. ; Skarmoutsos, F. ; Delides, A. ; Bakoula, C. ; Papadimitriou, A. ; Urano, F. / Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. In: Diabetes and Metabolism. 2015 ; Vol. 41, No. 5. pp. 433-435.

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

author = "Papadimitriou, {D. T.} and E. Manolakos and C. Bothou and G. Zoupanos and I. Papoulidis and S. Orru and F. Skarmoutsos and A. Delides and C. Bakoula and A. Papadimitriou and F. Urano",

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Papadimitriou, DT, Manolakos, E, Bothou, C, Zoupanos, G, Papoulidis, I, Orru, S, Skarmoutsos, F, Delides, A, Bakoula, C, Papadimitriou, A & Urano, F 2015, 'Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome', Diabetes and Metabolism, vol. 41, no. 5, pp. 433-435. https://doi.org/10.1016/j.diabet.2015.06.003

Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome. / Papadimitriou, D. T.; Manolakos, E.; Bothou, C.; Zoupanos, G.; Papoulidis, I.; Orru, S.; Skarmoutsos, F.; Delides, A.; Bakoula, C.; Papadimitriou, A.; Urano, F.

In: Diabetes and Metabolism, Vol. 41, No. 5, 11.2015, p. 433-435.

Research output: Contribution to journal › Letter

TY - JOUR

T1 - Maternal uniparental disomy of chromosome 4 and homozygous novel mutation in the WFS1 gene in a paediatric patient with Wolfram syndrome

AU - Papadimitriou, D. T.

AU - Manolakos, E.

AU - Bothou, C.

AU - Zoupanos, G.

AU - Papoulidis, I.

AU - Orru, S.

AU - Skarmoutsos, F.

AU - Delides, A.

AU - Bakoula, C.

AU - Papadimitriou, A.

AU - Urano, F.

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DO - 10.1016/j.diabet.2015.06.003

M3 - Letter

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VL - 41

SP - 433

EP - 435

JO - Diabetes and Metabolism

JF - Diabetes and Metabolism

SN - 1262-3636

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ER -