Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome

Cano A, Rouzier C, Monnot S, Chabrol B, Conrath J, Lecomte P, Delobel B, Boileau P, Valero R, Procaccio V, Paquis-Flucklinger V; French Group of Wolfram Syndrome, Vialettes B. Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndrome. Am J Med Genet A. 2007 Jul 15;143A(14):1605-12.