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

Podobné jednotky

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