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-File015.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
Orbital nodular fasciitis in child with biallelic germline RBL2 variant.
Rips J et al.
European Journal of Medical Genetics, 2022
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