Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Antzeko izenburuak

• KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)
  nork: Yang, Xian, et al.
  Argitaratua: (2010)
• Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling
  nork: Cheng, Long, et al.
  Argitaratua: (2014)
• KIF21A pathogenic variants cause Congenital Fibrosis of Extraocular Muscles type 3
  nork: Al-Haddad, Christiane, et al.
  Argitaratua: (2020)
• Structural basis for misregulation of kinesin KIF21A autoinhibition by CFEOM1 disease mutations
  nork: Bianchi, Sarah, et al.
  Argitaratua: (2016)
• CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
  nork: Engle, Elizabeth C, et al.
  Argitaratua: (2002)