Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway

Lignende værker

• Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway
  af: Narkis, Ginat , et al.
  Udgivet: (2007)
• High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
  af: Mordechai, Shikma, et al.
  Udgivet: (2011)
• PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
  af: Khateeb, Shareef, et al.
  Udgivet: (2006)
• Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
  af: Cohen, Idan, et al.
  Udgivet: (2014)
• ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)
  af: Patel, Nisha, et al.
  Udgivet: (2014)