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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Päätekijät:	Johannes Krämer, Meinrad Beer, Harald Bode, Benedikt Winter
Aineistotyyppi:	Artigo
Kieli:	Inglês
Julkaistu:	Frontiers Media S.A. 2021-02-01
Sarja:	Frontiers in Genetics
Aiheet:	autism TRAPPC9 intellectual disability genetics pediatrics
Linkit:	https://www.frontiersin.org/articles/10.3389/fgene.2020.00972/full
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