A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment...

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Detalles Bibliográficos
Autores principales: Hasan, Mahpara, Mainali, Gayatra, Aliu, Ermal, Paudel, Sita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678451/
https://www.ncbi.nlm.nih.gov/pubmed/36420349
http://dx.doi.org/10.1155/2022/4056780

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9678451/
https://www.ncbi.nlm.nih.gov/pubmed/36420349
http://dx.doi.org/10.1155/2022/4056780

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