Genes Involved and Combination of Phenotypic Heterogeneity in Patients Diagnosed With Autism Spectrum Disorder (Asd): A Literature Review

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Literature review reveals genetic influences in autism spectrum disorder, suggesting a need for improved diagnosis and management.

Autism spectrum disorder is strongly influenced by genetic factors, with over 800 genes implicated.
Heritability of autism spectrum disorder is over 80%, indicating significant genetic contributions to its complexity.
Key genes involved include MTHFR, GABRB3, and RELN, linked to various biological functions.
The findings highlight the need for better diagnostic tools and early therapeutic interventions in autism management.

Albuquerque et al. (2025) studied this question.

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