Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants

Exome Study of Single Nucleotide Variations in Patients with Syndromic and Non-Syndromic Autism Reveals Potential Candidate Genes for Diagnostics and Novel Single Nucleotide Variants

Autism spectrum disorder (ASD) is a neurodevelopmental impairment that occurs due to mutations related to the formation of the nervous system, combined with the impact of various epigenetic and environmental factors. This necessitates the identification of the genetic variations involved in ASD path...

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Main Authors: Lyudmila Belenska-Todorova, Milen Zamfirov, Tihomir Todorov, Slavena Atemin, Mila Sleptsova, Zornitsa Pavlova, Tanya Kadiyska, Ales Maver, Borut Peterlin, Albena Todorova
Format: Article
Language:English
Published: MDPI AG 2025-06-01
Series:Cells
Subjects:
autism spectrum disorder
whole exome sequencing
single nucleotide variations
neuron structure
neuron function
Online Access:https://www.mdpi.com/2073-4409/14/12/915
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