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
35876338 (PubMed )
Supplement: AJMG-188-3032-s001.xlsx › suplementary_Table
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
RPL10 mutation segregating in a family with X-linked syndromic Intellectual Disability.
Thevenon J et al.
American Journal of Medical Genetics. Part A, 2015
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