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

Ähnliche Einträge

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