TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype

Lignende værker

• Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome
  af: Zollino, Marcella, et al.
  Udgivet: (2011)
• A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
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  Udgivet: (2009)
• The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability
  af: Mortreux, Jérémie, et al.
  Udgivet: (2017)
• Genetics of autosomal recessive intellectual disability
  af: Jamra, Rami
  Udgivet: (2018)
• Novel variants underlying autosomal recessive intellectual disability in Pakistani consanguineous families
  af: Ilyas, Muhammad, et al.
  Udgivet: (2020)