Novel mutation in the carboxyl-terminal propeptide of the procollagen α1(I) chain in a girl with prenatal cortical hyperostosis and multiple fractures

Biochemistry, Genetics and Molecular Biology

• Bone Development 100%
• C-Terminus 100%
• Exon 50%
• Dysplasia 50%
• Protein Sequencing 50%
• Allele 50%
• Missense Mutation 50%
• Autosomal Dominant Inheritance 50%
• Urine Sampling 50%
• Peripheral Blood Cell 50%
• Mosaicism 50%
• Biochemical Analysis 50%

Keyphrases

• Cortical Hyperostosis 100%
• Procollagen 100%
• Hyperostosis 66%
• Somatic Mosaic 33%
• Caffey Disease 33%
• Ancestry Analysis 33%
• Protein Prediction 33%
• Infantile Cortical Hyperostosis 33%

Medicine and Dentistry

• Multiple Fracture 100%
• Hyperostosis 100%
• Osteogenesis Imperfecta 40%
• Caffey Disease 40%
• Lower Jaw 20%