Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes

Keyphrases

• Pseudoxanthoma Elasticum 100%
• ABCC6 Gene 100%
• GGCX Gene 100%
• Missense mutation 50%
• Proband 33%
• Autosomal Recessive 33%
• Compound Heterozygous mutation 33%
• Skin Findings 33%
• Carboxylase Activity 33%
• Gene Expression 16%
• Pathologic 16%
• Connective Tissue 16%
• Genetic Factors 16%
• Elastic Fibers 16%
• Haploinsufficiency 16%
• Heterozygosity 16%
• Heterozygous Carrier 16%
• Null mutation 16%
• Coagulation Factor Deficiency 16%
• Matrix Gla Protein 16%
• Cutaneous Features 16%
• Skin Changes 16%
• Tissue Mineralization 16%
• Digenic 16%
• Aunts 16%

Biochemistry, Genetics and Molecular Biology

• Pseudoxanthoma Elasticum 100%
• ABCC6 100%
• Mineralization 66%
• Missense Mutation 50%
• Proband 33%
• Autosomal Recessive Disorder 33%
• Gene Expression 16%
• Genetic Determinism 16%
• Elastic Fiber 16%
• Haploinsufficiency 16%
• Genetic Carrier 16%
• Heterozygote 16%
• Blood Coagulation Factor 16%
• Heterozygosity 16%
• Matrix Gla Protein 16%
• Deficiency 16%