Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

E. Piccinno; F. Ortolani; M. Vendemiale; A. Tummolo; M. Masciopinto; M. P. Natale; A. De Luca; E. Agolini; C. Aloi; A. Salina; G. D'Annunzio; R. Fischetto; F. Papadia

doi:10.1111/cge.12260

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

E. Piccinno, F. Ortolani, M. Vendemiale, A. Tummolo, M. Masciopinto, M. P. Natale, A. De Luca, E. Agolini, C. Aloi, A. Salina, G. D'Annunzio, R. Fischetto, F. Papadia

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

Original language	English
Pages (from-to)	197-198
Number of pages	2
Journal	Clinical Genetics
Volume	86
Issue number	2
DOIs	https://doi.org/10.1111/cge.12260
Publication status	Published - 2014

ASJC Scopus subject areas

Genetics(clinical)
Genetics
Medicine(all)

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10.1111/cge.12260

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Piccinno, E., Ortolani, F., Vendemiale, M., Tummolo, A., Masciopinto, M., Natale, M. P., De Luca, A., Agolini, E., Aloi, C., Salina, A., D'Annunzio, G., Fischetto, R., & Papadia, F. (2014). Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome. Clinical Genetics, 86(2), 197-198. https://doi.org/10.1111/cge.12260

Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome. / Piccinno, E.; Ortolani, F.; Vendemiale, M.; Tummolo, A.; Masciopinto, M.; Natale, M. P.; De Luca, A.; Agolini, E.; Aloi, C.; Salina, A.; D'Annunzio, G.; Fischetto, R.; Papadia, F.

In: Clinical Genetics, Vol. 86, No. 2, 2014, p. 197-198.

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

Piccinno, E, Ortolani, F, Vendemiale, M, Tummolo, A, Masciopinto, M, Natale, MP, De Luca, A, Agolini, E, Aloi, C, Salina, A, D'Annunzio, G, Fischetto, R & Papadia, F 2014, 'Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome', Clinical Genetics, vol. 86, no. 2, pp. 197-198. https://doi.org/10.1111/cge.12260

Piccinno, E. ; Ortolani, F. ; Vendemiale, M. ; Tummolo, A. ; Masciopinto, M. ; Natale, M. P. ; De Luca, A. ; Agolini, E. ; Aloi, C. ; Salina, A. ; D'Annunzio, G. ; Fischetto, R. ; Papadia, F. / Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome. In: Clinical Genetics. 2014 ; Vol. 86, No. 2. pp. 197-198.

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Novel homozygous mutation in exon 5 of WFS1 gene in an Apulian family with mild phenotypic expression of Wolfram syndrome

ASJC Scopus subject areas

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