A novel MGP mutation in a consanguineous family: Review of the clinical and molecular characteristics of Keutel syndrome

Keyphrases

• Clinical Characteristics 100%
• Gene mutation 100%
• Protein-coding Genes 100%
• Molecular Characteristics 100%
• Matrix Gla Protein 100%
• Keutel Syndrome 100%
• Novel Matrix 100%
• Consanguineous Family 100%
• Gain-of-function mutation 33%
• Autosomal Recessive 16%
• Brain White Matter 16%
• Soft Tissue 16%
• Exon 2 16%
• Clinical Phenotype 16%
• Donor Splice Site 16%
• Optic Nerve Atrophy 16%
• Calcification Inhibitors 16%
• Consanguineous 16%
• Extracellular Matrix Protein 1 (ECM1) 16%
• Bone Morphogenetic protein-2 (BMP-2) 16%
• Cartilage Calcification 16%
• Mid-dermal Elastolysis 16%
• Arab Family 16%

Biochemistry, Genetics and Molecular Biology

• Gene Mutation 100%
• Matrix Gla Protein 100%
• Loss of Function Mutation 33%
• Autosomal Recessive Inheritance 16%
• Intron 16%
• Exon 16%
• Bone Morphogenetic Protein 2 16%
• Extracellular Matrix Protein 16%
• Optics 16%