Spectrum of Mutations that cause Distal Arthrogryposis Types 1 and 2B

Podobne zapisy

• Mutations in ECEL1 Cause Distal Arthrogryposis Type 5D
  od: McMillin, Margaret J., i wsp.
  Wydane: (2013)
• Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5
  od: McMillin, Margaret J., i wsp.
  Wydane: (2014)
• Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes
  od: Sung, Sandy S., i wsp.
  Wydane: (2003)
• The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle
  od: Racca, Alice W., i wsp.
  Wydane: (2015)
• Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis
  od: Chong, Jessica X., i wsp.
  Wydane: (2020)