Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3

Lignende værker

• Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3
  af: Cameron-Christie, Sophia R., et al.
  Udgivet: (2018)
• Protein-altering MYH3 variants are associated with a spectrum of phenotypes extending to spondylocarpotarsal synostosis syndrome
  af: Carapito, Raphael, et al.
  Udgivet: (2016)
• Intragenic Deletions in FLNB Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis Syndrome
  af: Fukushima, Kaya, et al.
  Udgivet: (2021)
• A postnatal role for embryonic myosin revealed by MYH3 mutations that alter TGFβ signaling and cause autosomal dominant spondylocarpotarsal synostosis
  af: Zieba, Jennifer, et al.
  Udgivet: (2017)
• Atlanto-axial rotatory fixation in a girl with Spondylocarpotarsal synostosis syndrome
  af: Al Kaissi, Ali, et al.
  Udgivet: (2006)