Neuropsychological Characterization of Autosomal Recessive Intellectual Developmental Disorder 59 Associated with IMPA1 (MRT59)

Biallelic loss of function of IMPA1 causes autosomal recessive intellectual developmental disorder 59 (MRT59, OMIM #617323). MRT59 has been reported to present with significant intellectual disability and disruptive behavior, but little is known about the neurocognitive pattern of those patients. Th...

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Detalles Bibliográficos
Autores principales: Pessoa, Andre Luiz Santos, Quesada, Andrea Amaro, Nóbrega, Paulo Ribeiro, Viana, Ana Priscila Oliveira, de Oliveira, Kécia Tavares, Figueiredo, Thalita, Santos, Silvana, Kok, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377093/
https://www.ncbi.nlm.nih.gov/pubmed/37508980
http://dx.doi.org/10.3390/brainsci13071048

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10377093/
https://www.ncbi.nlm.nih.gov/pubmed/37508980
http://dx.doi.org/10.3390/brainsci13071048

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