The Phenotypic Spectrum of Contiguous Deletion of CYP21A2 and Tenascin XB: Quadricuspid Aortic Valve and Other Midline Defects

Lignende værker

• Tenascin-X Haploinsufficiency Associated with Ehlers-Danlos Syndrome in Patients with Congenital Adrenal Hyperplasia
  af: Merke, Deborah P., et al.
  Udgivet: (2013)
• Junction Site Analysis of Chimeric CYP21A1P/CYP21A2 Genes in 21-Hydroxylase Deficiency
  af: Chen, Wuyan, et al.
  Udgivet: (2011)
• Complement Component 4 Copy Number Variation and CYP21A2 Genotype Associations in Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency
  af: Chen, Wuyan, et al.
  Udgivet: (2012)
• Comprehensive Mutation Analysis of the CYP21A2 Gene: An Efficient Multistep Approach to the Molecular Diagnosis of Congenital Adrenal Hyperplasia
  af: Xu, Zhi, et al.
  Udgivet: (2013)
• Transforming growth factor-β (TGF-β) pathway abnormalities in tenascin-X deficiency associated with CAH-X syndrome
  af: Morissette, Rachel, et al.
  Udgivet: (2013)