Keyphrases
Clinical Characteristics
100%
Gene mutation
100%
Protein-coding Genes
100%
Molecular Characteristics
100%
Keutel Syndrome
100%
Novel Matrix
100%
Consanguineous Family
100%
Matrix Gla Protein
100%
Gain-of-function mutation
33%
White Matter
16%
Soft Tissue
16%
Optic Nerve Atrophy
16%
Bone Morphogenetic protein-2 (BMP-2)
16%
Autosomal Recessive
16%
Consanguineous
16%
Exon 2
16%
Clinical Phenotype
16%
Extracellular Matrix Protein 1 (ECM1)
16%
Donor Splice Site
16%
Calcification Inhibitors
16%
Cartilage Calcification
16%
Mid-dermal Elastolysis
16%
Arab Family
16%
Medicine and Dentistry
Gene Mutation
100%
Matrix Gla Protein
100%
Loss of Function Mutation
33%
Optic Nerve Atrophy
16%
Autosomal Recessive Inheritance
16%
Elastolysis
16%
Intron
16%
Bone Morphogenetic Protein 2
16%
Exon
16%
Extracellular Matrix Protein
16%
Biochemistry, Genetics and Molecular Biology
Gene Mutation
100%
Matrix Gla Protein
100%
Loss of Function Mutation
33%
Exon
16%
Intron
16%
Autosomal Recessive Inheritance
16%
Extracellular Matrix Protein
16%
Bone Morphogenetic Protein 2
16%
Pharmacology, Toxicology and Pharmaceutical Science
Syndrome
100%
Osteocalcin
100%
Bone Morphogenetic Protein 2
16%
Optic Nerve Atrophy
16%
Matrix Protein
16%
Elastolysis
16%