A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

A de novo frameshift pathogenic variant in TBR1 identified in autism without intellectual disability

Abstract Background In order to be able to provide accurate genetic counseling to patients with Autism Spectrum Disorder (ASD), it is crucial to identify correlations between heterogeneous phenotypes and genetic alterations. Among the hundreds of de novo pathogenic variants reported in ASD, single-n...

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Bibliographic Details
Main Authors: Laurie-Anne Sapey-Triomphe, Julie Reversat, Gaëtan Lesca, Nicolas Chatron, Marina Bussa, Sylvie Mazoyer, Christina Schmitz, Sandrine Sonié, Patrick Edery
Format: Article
Language:English
Published: BMC 2020-09-01
Series:Human Genomics
Online Access:http://link.springer.com/article/10.1186/s40246-020-00281-5

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