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

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

Biallelic loss of function of <i>IMPA1</i> 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...

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Bibliografiske detaljer
Main Authors: Andre Luiz Santos Pessoa, Andrea Amaro Quesada, Paulo Ribeiro Nóbrega, Ana Priscila Oliveira Viana, Kécia Tavares de Oliveira, Thalita Figueiredo, Silvana Santos, Fernando Kok
Format: Article
Sprog:English
Udgivet: MDPI AG 2023-07-01
Serier:Brain Sciences
Fag:
<i>IMPA1</i>
intellectual disability
functional dependence
neuropsychological profile
Online adgang:https://www.mdpi.com/2076-3425/13/7/1048

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https://www.mdpi.com/2076-3425/13/7/1048

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