Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID). The major genetic causes for ASD and ID are largely unknown, however, a shared genetic etiology...

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Bibliographic Details
Main Authors: Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-02-01
Series:Frontiers in Genetics
Subjects:
autism
TRAPPC9
intellectual disability
genetics
pediatrics
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2020.00972/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2020.00972/full

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