Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly

Keyphrases

• Sonic Hedgehog 100%
• Triphalangeal Thumb 100%
• Preaxial Polydactyly 100%
• Thumb Polydactyly 100%
• Novel Point mutations 100%
• Pedigree 71%
• Mild Phenotype 42%
• 5′-end 28%
• North America 14%
• Autosomal Dominant 14%
• Family Members 14%
• Point mutation 14%
• Sequence Analysis 14%
• Disease Status 14%
• Large Families 14%
• Regulatory Elements 14%
• Non-penetrance 14%
• Transcription Factor Binding Sites 14%
• Common Cause 14%
• Modifier Genes 14%
• Genotype-phenotype 14%
• Affected Family Members 14%
• Carrier Status 14%
• Low Penetrance 14%
• Small Families 14%
• Spatiotemporal Expression 14%
• LMBR1 14%

Biochemistry, Genetics and Molecular Biology

• Enhancer Region 100%
• Point Mutation 100%
• Sonic Hedgehog 100%
• Pedigree 100%
• Binding Site 20%
• Autosomal Dominant Inheritance 20%
• Transcription Factors 20%
• Regulatory Element 20%
• Intron 20%
• Protein Sequencing 20%
• Genotyping 20%
• Modifier Gene 20%
• Cdx 20%
• Penetrance 20%