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

Spondylocarpotarsal synostosis (SCT) is a skeletal disorder characterized by progressive vertebral, carpal and tarsal fusions, and mild short stature. The majority of affected individuals have an autosomal recessive form of SCT and are homozygous or compound heterozygous for nonsense mutations in th...

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Veröffentlicht in:Scientific reports 2017-02, Vol.7 (1), p.41803-41803, Article 41803
Hauptverfasser: Zieba, Jennifer, Zhang, Wenjuan, Chong, Jessica X., Forlenza, Kimberly N., Martin, Jorge H., Heard, Kelly, Grange, Dorothy K., Butler, Merlin G., Kleefstra, Tjitske, Lachman, Ralph S., Nickerson, Deborah, Regnier, Michael, Cohn, Daniel H., Bamshad, Michael, Krakow, Deborah
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Sprache:eng
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