A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants

Lignende værker

• Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change? Two Novel Mutations and Literature Review
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• A non-coding variant in the 5ʹ UTR of DLG3 attenuates protein translation to cause non-syndromic intellectual disability
  af: Kumar, Raman, et al.
  Udgivet: (2016)
• NUP188 Biallelic Loss of Function May Underlie a New Syndrome: Nucleoporin 188 Insufficiency Syndrome?
  af: Sandestig, Anna, et al.
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• De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth
  af: Schäfgen, Johanna, et al.
  Udgivet: (2016)
• A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
  af: Sachi Tokunaga, et al.
  Udgivet: (2024-01-01)