A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

Keyphrases

• Collagen Disease 100%
• Infantile Cortical Hyperostosis 100%
• Caffey Disease 100%
• COL1A1 mutation 100%
• COL1A1 66%
• Missense mutation 33%
• Exon 33%
• Helical Domain 33%
• Healthy Individuals 33%
• Disulfide Bond 33%
• Densely Packed 33%
• Type I Collagen 33%
• Collagen Fibrils 33%
• Large Families 33%
• Autosomal Dominant 33%
• LOD Score 33%
• Small Families 33%
• Inguinal Hernia 33%
• Ehlers-Danlos Syndrome 33%
• Fibroblast Culture 33%
• Subperiosteal 33%
• Obligate Carrier 33%
• New Bone Formation 33%
• Genetic Linkage 33%
• Chromosome 17q21 33%
• Cortical Hyperostosis 33%
• Dermal Collagen 33%
• Joint Hyperlaxity 33%
• Gene Encoding 33%
• Genetic Screen 33%
• Mild Form 33%
• Syndrome Type 33%
• Triple Helical 33%

Biochemistry, Genetics and Molecular Biology

• Chromosome 100%
• Exon 50%
• Missense Mutation 50%
• Disulfide 50%
• Type I Collagen 50%
• Autosomal Dominant Inheritance 50%
• Ossification 50%
• Obligate Carrier 50%
• Genetic Linkage 50%
• Fibroblast Culture 50%