KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM)

Lignende værker

• Spatiotemporal expression pattern of KIF21A during normal embryonic development and in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
  af: Desai, Jigar, et al.
  Udgivet: (2012)
• Surgical management of hypotropia in congenital fibrosis of extraocular muscles (CFEOM) presented by pseudoptosis
  af: Tawfik, Hatem A, et al.
  Udgivet: (2013)
• Selective aplasia of global fibres of all extraocular muscles in congenital fibrosis of extraocular muscles (CFEOM): a rare presentation
  af: Saini, Manu, et al.
  Udgivet: (2017)
• CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
  af: Engle, Elizabeth C, et al.
  Udgivet: (2002)
• Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling
  af: Cheng, Long, et al.
  Udgivet: (2014)