Associated Papers
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN et al.
Brain : a Journal of Neurology, 2025
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.
Samra N et al.
Journal of Human Genetics, 2021
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
Brunet T et al.
Annals of Clinical and Translational Neurology, 2020
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