Identification of two novel splice-site mutations in CHD7 gene in two patients with classical and atypical CHARGE syndrome phenotype

MeSH terms

• CHARGE Syndrome / diagnosis
• CHARGE Syndrome / genetics*
• CHARGE Syndrome / pathology*
• Codon, Nonsense / genetics
• Comparative Genomic Hybridization
• DNA Helicases / genetics*
• DNA Mutational Analysis
• DNA-Binding Proteins / genetics*
• Female
• Humans
• Introns / genetics
• Male
• Mutation, Missense / genetics
• Phenotype*
• RNA Splice Sites / genetics