A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Jennifer Zieba,Wenjuan Zhang,Jessica X. Chong,Kimberly N. Forlenza,Jorge H. Martin,Kelly Heard,Dorothy K. Grange,Merlin G. Butler,Tjitske Kleefstra,Ralph S. Lachman,Deborah A. Nickerson,Michael Regnier,Daniel H. Cohn,Michael J. Bamshad,Deborah Krakow

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

2017

Jennifer Zieba
Wenjuan Zhang
Jessica X. Chong
Kimberly N. Forlenza
Jorge H. Martin
Kelly Heard
Dorothy K. Grange
Merlin G. Butler
Tjitske Kleefstra
Ralph S. Lachman
Deborah A. Nickerson
Michael Regnier
Daniel H. Cohn
Michael J. Bamshad
Deborah Krakow

A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis

Keywords:

Bone morphogenetic protein
Myosin
Synostosis
Phenotype
Dominance (genetics)
Signal transduction
Transforming growth factor beta
Endocrinology
Mutation
Biology
Internal medicine
Missense mutation
FLNB
Compound heterozygosity
Cell biology
Nonsense mutation
Genetics
Skeletal disorder

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