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