Genes
Oligo Pools
NGS
Variant Libraries
Synthetic Controls
Antibody Discovery
IVDR Solutions
Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood
PRODUCTS USED
ABSTRACT
We report for the first time a novel missense variant in NHLRC2. We extend the NHLRC2 gene associated neuropsychological and neuroimaging phenotype, and propose that the NHLRC2 gene should be considered in patients with symptoms of atypical Rett syndrome. We also summarise currently available literature on neuropsychological symptoms in children with FINCA who survived into late childhood.
