Mutational Spectrum in the Δ7-Sterol Reductase Gene and Genotype-Phenotype Correlation in 84 Patients with Smith-Lemli-Opitz Syndrome

Lignende værker

• Mutations in the Δ7-sterol reductase gene in patients with the Smith–Lemli–Opitz syndrome
  af: Fitzky, Barbara U., et al.
  Udgivet: (1998)
• Maternal apo E genotype is a modifier of the Smith-Lemli-Opitz syndrome
  af: Witsch-Baumgartne..., M, et al.
  Udgivet: (2004)
• Clinical utility gene card for: Smith-Lemli-Opitz Syndrome [SLOS]
  af: Witsch-Baumgartner, Martina, et al.
  Udgivet: (2013)
• Birthday of a syndrome: 50 years anniversary of Smith–Lemli–Opitz Syndrome
  af: Witsch-Baumgartner, Martina, et al.
  Udgivet: (2015)
• Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders
  af: Svoboda, Melissa D., et al.
  Udgivet: (2012)