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 › peer-review

8 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",

year = "2015",

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doi = "10.1016/j.diabet.2015.06.003",

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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 › peer-review

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.

PY - 2015/11

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DO - 10.1016/j.diabet.2015.06.003

M3 - Letter

C2 - 26169481

AN - SCOPUS:84947038334

VL - 41

SP - 433

EP - 435

JO - Diabetes and Metabolism

JF - Diabetes and Metabolism

SN - 1262-3636

IS - 5

ER -

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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