Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

Lignende værker

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• Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient
  af: Abidi, Affef, et al.
  Udgivet: (2016)
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• Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability
  af: Choucair, Nancy, et al.
  Udgivet: (2015)
• A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity
  af: Jdila, Marwa Ben, et al.
  Udgivet: (2021)