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Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.

Patrick R BlackburnMatthew J SchultzCarrie A LahnerDong LiElizabeth BhojLaura J FisherDeborah L RenaudAmy KenneyNiema IbrahimMais HashemMohammed Zain SeidahmedLinda HasadsriSamantha A Schrier VerganoFowzan Sami AlkurayaBrendan C Lanpher
Published in: Annals of clinical and translational neurology (2020)
In this study, we highlight the importance of recognizing milder forms of the disorder, which may escape detection due to atypical disease presentation.
Keyphrases
  • copy number
  • intellectual disability
  • gene expression
  • case report
  • loop mediated isothermal amplification
  • dna methylation