Associated Papers
Postnatal microcephaly and retinal involvement expand the phenotype of RPL10-related disorder.
Cappuccio G et al.
American Journal of Medical Genetics. Part A, 2022
Uncovering the assembly pathway of human ribosomes and its emerging links to disease.
Bohnsack KE et al.
The Embo Journal, 2019
Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies.
Hetman M et al.
Journal of Neurochemistry, 2019
A de novo mutation in RPL10 causes a rare X-linked ribosomopathy characterized by syndromic intellectual disability and epilepsy: A new case and review of the literature.
Bourque DK et al.
European Journal of Medical Genetics, 2018
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
Zanni G et al.
Human Mutation, 2015
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