Associated Papers
Case Report: Identification of a novel hemizygous missense RPL10 gene variant in two unrelated patients.
Xu L et al.
Frontiers in Pediatrics, 2025
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
The genetics of congenitally small brains.
Duerinckx S et al.
Seminars in Cell & Developmental Biology, 2018
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
A novel ribosomopathy caused by dysfunction of RPL10 disrupts neurodevelopment and causes X-linked microcephaly in humans.
Brooks SS et al.
Genetics, 2014
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