Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression

Lignende værker

• Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
  af: Mullegama, Sureni V, et al.
  Udgivet: (2016)
• Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND)
  af: Mullegama, Sureni V, et al.
  Udgivet: (2016)
• MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith–Magenis and fragile X syndromes
  af: Mullegama, Sureni V, et al.
  Udgivet: (2015)
• Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures
  af: Williams, Stephen R, et al.
  Udgivet: (2010)
• Phenotypic and Molecular Convergence of 2q23.1 Deletion Syndrome with Other Neurodevelopmental Syndromes Associated with Autism Spectrum Disorder
  af: Mullegama, Sureni V., et al.
  Udgivet: (2015)