Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Gelijkaardige items

• Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
  door: Archer, H L, et al.
  Gepubliceerd in: (2006)
• Updating the profile of C-terminal MECP2 deletions in Rett syndrome
  door: Bebbington, A, et al.
  Gepubliceerd in: (2009)
• Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X‐chromosome inactivation
  door: Archer, Hayley, et al.
  Gepubliceerd in: (2007)
• Linking MECP2 and pain sensitivity: the example of Rett syndrome
  door: Downs, Jenny, et al.
  Gepubliceerd in: (2010)
• Refining the phenotype of common mutations in Rett syndrome
  door: Colvin, L, et al.
  Gepubliceerd in: (2004)