The Full Spectrum of Holoprosencephaly-Associated Mutations within the ZIC2 Gene in Humans Predicts Loss-of-Function as the Predominant Disease Mechanism

Những quyển sách tương tự

• Truncating loss-of-function mutations of DISP1 contribute to holoprosencephaly-like microform features in humans
  Bằng: Roessler, Erich, et al.
  Được phát hành: (2009)
• The Mutational Spectrum of Holoprosencephaly-Associated Changes within the SHH Gene in Humans Predicts Loss-of-Function Through Either Key Structural Alterations of the Ligand or Its Altered Synthesis
  Bằng: Roessler, Erich, et al.
  Được phát hành: (2009)
• Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals
  Bằng: Solomon, Benjamin D., et al.
  Được phát hành: (2010)
• Clinical utility gene card for: Holoprosencephaly
  Bằng: Dubourg, Christèle, et al.
  Được phát hành: (2011)
• Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients
  Bằng: Pineda-Alvarez, Daniel E., et al.
  Được phát hành: (2010)