Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

Biochemistry, Genetics and Molecular Biology

• Bone Development 100%
• Exome Sequencing 100%
• Autosomal Recessive Inheritance 100%
• Genetics 75%
• Dysplasia 50%
• Single-Nucleotide Polymorphism 50%
• Proband 50%
• Gene Mutation 25%
• Genetic Screening 25%
• Gene Product 25%
• Copy-Number Variation 25%

Keyphrases

• CRTAP 100%
• Autosomal Recessive Osteogenesis Imperfecta 100%
• Skeletal Dysplasia 33%
• Discovery pipeline 16%
• Variant Discovery 16%
• Hg19 16%