Associated Papers
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder.
Aughey GN et al.
Brain : a Journal of Neurology, 2025
39692517 (PubMed )
Supplement: awae363_supplementary_data.zip › brain-2024-01175-File012.xlsx › Sheet1
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
Aughey G et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
Brunet T et al.
Annals of Clinical and Translational Neurology, 2020
32105419 (PubMed )
Supplement: ACN3-7-390-s001.docx
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