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

INTRODUCTION: Autism 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 etiolog...

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Detalles Bibliográficos
Autores principales: Krämer, Johannes, Beer, Meinrad, Bode, Harald, Winter, Benedikt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7947907/
https://www.ncbi.nlm.nih.gov/pubmed/33719327
http://dx.doi.org/10.3389/fgene.2020.00972

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