Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability

Keyphrases

• Missense mutation 100%
• CHD7 Gene 100%
• CHARGE Syndrome 100%
• Lymphocytes 40%
• Mild Phenotype 40%
• CHD7 mutation 40%
• CHD7 40%
• Clinical Variability 40%
• Germline Mosaicism 40%
• Somatic mutation 20%
• High Risk 20%
• Clinical Features 20%
• Autosomal Dominant 20%
• Family Members 20%
• Familial Cases 20%
• Somatic Mosaicism 20%
• Clinical Spectrum 20%
• Exon 8 20%
• Mild Forms 20%
• Mosaicism 20%
• Multiple Families 20%
• Affected Siblings 20%
• Minor Symptoms 20%
• Non-mosaic 20%
• Transmission Risk 20%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• CHD7 100%
• Mosaicism 33%
• Germline Mosaicism 33%
• Lymphocyte 33%
• Somatic Mutation 16%
• Autosomal Dominant Inheritance 16%
• Exon 16%