A Biallelic Truncating Variant in the TPR Domain of GEMIN5 Associated with Intellectual Disability and Cerebral Atrophy

GEMIN5 is a multifunctional RNA-binding protein required for the assembly of survival motor neurons. Several bi-allelic truncating and missense variants in this gene are reported to cause a neurodevelopmental disorder characterized by cerebellar atrophy, intellectual disability (ID), and motor dysfu...

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Detalles Bibliográficos
Autores principales: Ibrahim, Nazia, Naz, Shagufta, Mattioli, Francesca, Guex, Nicolas, Sharif, Saima, Iqbal, Afia, Ansar, Muhammad, Reymond, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048441/
https://www.ncbi.nlm.nih.gov/pubmed/36980979
http://dx.doi.org/10.3390/genes14030707

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10048441/
https://www.ncbi.nlm.nih.gov/pubmed/36980979
http://dx.doi.org/10.3390/genes14030707

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