Clinical picture, evolution and peculiar molecular findings in a very large pedigree with Wolfram syndrome

Keyphrases

• Clinical picture 100%
• Large Pedigree 100%
• Molecular Findings 100%
• Wolfram Syndrome 100%
• Pedigree 50%
• Italian Patients 33%
• Exon 8 33%
• Family Members 16%
• Coding Region 16%
• Clinical Evolution 16%
• Proband 16%
• Large Families 16%
• Stop Codon 16%
• Italian Case 16%
• Frequent mutation 16%
• Normal Family 16%
• Preliminary Screening 16%
• Consanguineous Parents 16%
• WFS1 Gene 16%
• Patient's Family 16%
• Autosomal Recessive Inheritance 16%

Biochemistry, Genetics and Molecular Biology

• Pedigree 100%
• Wolfram Syndrome 100%
• Exon 33%
• Proband 16%
• Stop Codon 16%
• WFS1 16%
• Coding Region 16%
• Autosomal Recessive Inheritance 16%