Zieba, Jennifer

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis. [electronic resource] - Scientific reports 02 2017 - 41803 p. digital

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

2045-2322

10.1038/srep41803 doi


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