A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. [electronic resource]
Producer: 20181024Description: 41803 p. digitalISSN:- 2045-2322
- Abnormalities, Multiple -- diagnosis
- Alleles
- Bone Morphogenetic Proteins -- metabolism
- Cytoskeletal Proteins -- genetics
- Female
- Genes, Dominant
- Genotype
- Humans
- Lumbar Vertebrae -- abnormalities
- Male
- Musculoskeletal Diseases -- diagnosis
- Mutation
- Myosins -- genetics
- Phenotype
- Radiography
- Scoliosis -- congenital
- Signal Transduction
- Synostosis -- diagnosis
- Thoracic Vertebrae -- abnormalities
- Transforming Growth Factor beta -- metabolism
- Exome Sequencing
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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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