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

Author

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., and Papadia, F.

Subjects
WOLFRAM syndrome, MISSENSE mutation
Abstract

A letter to the editor is presented regarding the familial cases of Wolfram syndrome (WS) due to a novel homozygous WFS1 missense mutation.

Published
2014
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