Article
Identification of one novel causative mutation in exon 4 of WFS1 gene in two Italian siblings with classical DIDMOAD syndrome phenotype.
Gene - 10 Sept 2013
Rigoli Luciana, Lombardo Fortunato, Salzano Giuseppina, Di Bella Chiara, Messina Maria Francesca, De Luca Filippo, Iafusco Dario
Abstract excerpt
UNLABELLED: The aim of the present paper is to describe a novel missense mutation (G107R) of WFS1 gene that was unexpectedly detected, in two siblings from Southern Italy, outside exon 8; a very unusual finding which has previously been reported only twice in Italian patients with Wolfram syndrome (WS). Although in Spanish pedigrees' WFS1 mutations are frequently located in exon 4, this finding is very infrequent...
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