[HTML][HTML] Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype
ML de Heredia, R Clèries, V Nunes - Genetics in Medicine, 2013 - Elsevier
Purpose Wolfram syndrome is a degenerative, recessive rare disease with an onset in
childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different
variations in WFS1 have been described in patients with Wolfram syndrome, which
complicates the establishment of clear genotype–phenotype correlation. The purpose of this
study was to elucidate the role of WFS1 mutations and update the natural history of the
disease. Methods This study analyzed clinical and genetic data of 412 patients with Wolfram …
childhood. It is caused by mutations in WFS1 or CISD2 genes. More than 200 different
variations in WFS1 have been described in patients with Wolfram syndrome, which
complicates the establishment of clear genotype–phenotype correlation. The purpose of this
study was to elucidate the role of WFS1 mutations and update the natural history of the
disease. Methods This study analyzed clinical and genetic data of 412 patients with Wolfram …
