Whole Exome Sequencing in Individuals with Idiopathic Clubfoot Reveals a Recurrent Filamin B (FLNB) Deletion

Keyphrases

• Association Analysis 5%
• Birth Defects 5%
• Causative Gene 5%
• Clinical Features 5%
• Clinical Significance 5%
• Clubfoot 100%
• Codon Deletion 5%
• Comorbidity 5%
• Congenital Deformity 5%
• Discovery Process 5%
• Elbow 5%
• Exact Test 5%
• Family Members 5%
• Filamin B 100%
• Fisher 5%
• Genetic Causes 5%
• Genotype 5%
• GnomAD 10%
• Heritability 10%
• Hypermobility 5%
• Identified Genes 5%
• Idiopathic Clubfoot 100%
• In-frame Deletion 5%
• Incomplete Penetrance 10%
• Inward Turn 5%
• Isolated Patients 5%
• Larsen Syndrome 10%
• Minor Allele Frequency 5%
• Missense Variants 20%
• Multigenerational Families 5%
• Nonsense 5%
• Odds Ratio 5%
• Proband 20%
• Rare Gene Variants 5%
• Rare Variants 15%
• Recurrence Risk 5%
• Recurrent Variants 10%
• Segregation Analysis 5%
• Sequence Data 5%
• Thumb 10%
• Truncation 5%
• Two-tailed 5%
• Upper Extremity 5%
• Whole Exome Sequencing 100%

Biochemistry, Genetics and Molecular Biology

• Candidate Gene 9%
• Codon 9%
• Comorbidity 9%
• Exome 9%
• Exome Sequencing 100%
• Filamin 100%
• Genetics 9%
• Indel 9%
• Minor Allele Frequency 9%
• Missense 36%
• Penetrance 18%
• Proband 36%
• Rare Variant 27%