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 journalArticle

Original languageEnglish
Pages (from-to)197-198
Number of pages2
JournalClinical Genetics
Volume86
Issue number2
DOIs
Publication statusPublished - 2014

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

Piccinno, E., Ortolani, F., Vendemiale, M., Tummolo, A., Masciopinto, M., Natale, M. P., ... 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 journalArticle

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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