Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations. [electronic resource]
Producer: 20160415Description: 1354-69 p. digitalISSN:- 1552-4833
- Adolescent
- Alu Elements -- genetics
- Child
- Child, Preschool
- Collagen Type I -- genetics
- Cyclophilins -- genetics
- Diphosphonates -- therapeutic use
- Extracellular Matrix Proteins -- genetics
- Eye Proteins -- genetics
- Female
- Genes, Recessive
- Genetic Association Studies
- Humans
- Infant
- Male
- Membrane Glycoproteins -- genetics
- Molecular Chaperones
- Molecular Sequence Data
- Mutation
- Nerve Growth Factors -- genetics
- Osteogenesis Imperfecta -- diagnostic imaging
- Pedigree
- Prolyl Hydroxylases
- Proteoglycans -- genetics
- Radiography
- Sequence Analysis, DNA
- Serpins -- genetics
- Tacrolimus Binding Proteins -- genetics
- Young Adult
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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