Keyphrases
Compound Heterozygous mutation
100%
Congenital Contractures
100%
PLOD2
100%
Bruck Syndrome
100%
Osteogenesis Imperfecta
33%
COL1A1
22%
Joint Contracture
22%
COL1A2
22%
FKBP10
22%
Pterygium
22%
Exon 12
22%
Non-associated
11%
Proband
11%
Autosomal Recessive
11%
Exome Sequencing
11%
Gain-of-function mutation
11%
Tetracycline
11%
Bone Formation
11%
Frameshift
11%
Exon 8
11%
Deletion Analysis
11%
Microarray
11%
Bone Mineral Density
11%
Missense Variants
11%
Clinical Phenotype
11%
Healing
11%
Central Domain
11%
Type I Collagen
11%
Osteopenia
11%
Copy number
11%
Pulmonary Disease
11%
Exon
11%
Nonsense
11%
Sanger Sequencing
11%
Low-density Lipoprotein Receptor-related Protein 5 (LRP5)
11%
Splicing mutation
11%
Autosomal Recessive Inheritance
11%
Patchy
11%
Rare Disorders
11%
Fragility Fracture
11%
Osteoid
11%
Dysmorphic Features
11%
Missense
11%
Short Stature
11%
Cervical Vertebrae
11%
Alendronate
11%
Hydroxylation
11%
Mutation Testing
11%
Telopeptide
11%
Cleft Soft Palate
11%
Protrusio Acetabuli
11%
Chromosome 22q11.2 Deletion Syndrome
11%
Procollagen-lysine 2-oxoglutarate 5-dioxygenase 2
11%
Congenital Fusion
11%
Subsequent Fracture
11%
Exome Aggregation Consortium
11%
Blue Sclera
11%
Velocardiofacial Syndrome
11%
Progressive Scoliosis
11%
LH Activity
11%
Skull Bone
11%
Bell-shaped Thorax
11%
IFITM5
11%
Iliac Crest Biopsy
11%
Pediatric Osteoporosis
11%
Lysyl Hydroxylase 2
11%
Contiguous Gene Syndrome
11%
Domain of Unknown Function
11%
Biochemistry, Genetics and Molecular Biology
Exon
100%
Bone Development
75%
Missense
50%
Autosomal Recessive Inheritance
50%
COL1A2
50%
FKBP10
50%
Ossification
25%
Exome Sequencing
25%
C-Terminus
25%
Exome
25%
Proband
25%
Loss of Function Mutation
25%
Cross-Link
25%
Type I Collagen
25%
LRP5
25%
Splice Site Mutation
25%
Bone Density
25%
Body Height
25%
Hydroxylation
25%
Compound Heterozygosity
25%
Domain of Unknown Function
25%
Osteoid
25%
Lysyl Hydroxylase
25%
Contiguous Gene Syndrome
25%
P53-Hdm2 Protein-Protein Interaction Biosensor
25%
Lysine
25%
Dideoxynucleotide Sequencing
25%
Dioxygenase
25%