Novel mutation G324C in WNT1 mapped in a large Pakistani family with severe recessively inherited Osteogenesis Imperfecta

Biochemistry, Genetics and Molecular Biology

• Bone Development 100%
• WNT1 100%
• Exome Sequencing 33%
• Dideoxynucleotide Sequencing 33%
• Genetics 16%
• Exon 16%
• Missense Mutation 16%
• Dysplasia 16%
• Body Height 16%
• Candidate Gene 16%
• Autosomal Recessive Inheritance 16%
• Single Nucleotide Polymorphism 16%
• Bone Density 16%
• SNP Array 16%
• Point Mutation 16%
• Consanguinity 16%
• Homozygosity 16%
• Bone Mass 16%
• Osteoblast 16%

Keyphrases

• WNT1 mutation 33%
• Multiple Platforms 16%
• Bone Deformity 16%
• Fragility Fracture 16%