Associated Papers
Functional insight into a neurodevelopmental disorder caused by missense variants in an RNA-binding protein, RBM10.
Imagawa E et al.
Journal of Human Genetics, 2023
Missense variant in RBM10 associated with mild and non-lethal form of TARP syndrome.
Potter AB et al.
Clinical Genetics, 2023
A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10.
Owczarek-Lipska M et al.
Genes, 2022
Further evidence for distinct traits associated with RBM10 missense variants.
Poulton C et al.
Clinical Genetics, 2022
Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features.
Kumps C et al.
Clinical Genetics, 2021
A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features.
Imagawa E et al.
Clinical Genetics, 2020
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