Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway

Gelijkaardige items

• Lethal Congenital Contractural Syndrome Type 2 (LCCS2) Is Caused by a Mutation in ERBB3 (Her3), a Modulator of the Phosphatidylinositol-3-Kinase/Akt Pathway
  door: Narkis, Ginat , et al.
  Gepubliceerd in: (2007)
• PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
  door: Khateeb, Shareef, et al.
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• Structural insights into lethal contractural syndrome type 3 (LCCS3) caused by a missense mutation of PIP5Kγ
  door: Zeng, Xuankun, et al.
  Gepubliceerd in: (2018)
• Autosomal recessive Adams–Oliver syndrome caused by homozygous mutation in EOGT, encoding an EGF domain-specific O-GlcNAc transferase
  door: Cohen, Idan, et al.
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• High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2
  door: Mordechai, Shikma, et al.
  Gepubliceerd in: (2011)