Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decay

Keyphrases

• Mutation Analysis 100%
• Mutation Spectrum 100%
• Nonsense-mediated mRNA Decay 100%
• Rab23 100%
• Carpenter Syndrome 100%
• Truncating mutation 40%
• Polysyndactyly 40%
• Obesity 20%
• Small GTPase 20%
• Missense mutation 20%
• Homozygosity 20%
• Autosomal Recessive 20%
• Laterality Defects 20%
• Genotype-phenotype Correlation 20%
• Splicing mutation 20%
• Craniosynostosis 20%
• In-frame Deletion 20%
• External Genitalia 20%
• Molecular Pathogenesis 20%
• Compound Heterozygous mutation 20%
• Nonsense-mediated Decay 20%
• Congenital Malformations 20%
• Homozygous Missense mutation 20%
• Phenotypic Spectrum 20%
• High Birthweight 20%
• Current Group 20%
• Independent Families 20%
• Multisuture Craniosynostosis 20%
• Rab Family 20%

Biochemistry, Genetics and Molecular Biology

• Missense Mutation 100%
• Nonsense-Mediated Decay 100%
• Homozygosity 50%
• Genotype Phenotype Correlation 50%
• Genetic Carrier 50%
• Heterozygote 50%
• Autosomal Recessive Disorder 50%
• Splice Site Mutation 50%
• High Birth Weight 50%
• Hemispheric Dominance 50%
• Small GTPase 50%