TY  - GEN
AU  - Zieba,Jennifer
AU  - Zhang,Wenjuan
AU  - Chong,Jessica X
AU  - Forlenza,Kimberly N
AU  - Martin,Jorge H
AU  - Heard,Kelly
AU  - Grange,Dorothy K
AU  - Butler,Merlin G
AU  - Kleefstra,Tjitske
AU  - Lachman,Ralph S
AU  - Nickerson,Deborah
AU  - Regnier,Michael
AU  - Cohn,Daniel H
AU  - Bamshad,Michael
AU  - Krakow,Deborah
TI  - A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
SN  - 2045-2322
PY  - 2018///1024
KW  - Abnormalities, Multiple
KW  - diagnosis
KW  - Alleles
KW  - Bone Morphogenetic Proteins
KW  - metabolism
KW  - Cytoskeletal Proteins
KW  - genetics
KW  - Female
KW  - Genes, Dominant
KW  - Genotype
KW  - Humans
KW  - Lumbar Vertebrae
KW  - abnormalities
KW  - Male
KW  - Musculoskeletal Diseases
KW  - Mutation
KW  - Myosins
KW  - Phenotype
KW  - Radiography
KW  - Scoliosis
KW  - congenital
KW  - Signal Transduction
KW  - Synostosis
KW  - Thoracic Vertebrae
KW  - Transforming Growth Factor beta
KW  - Exome Sequencing
N1  - Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/srep41803
ER  -