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

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-nucleotid...

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Detalles Bibliográficos
Autores principales: Sapey-Triomphe, Laurie-Anne, Reversat, Julie, Lesca, Gaëtan, Chatron, Nicolas, Bussa, Marina, Mazoyer, Sylvie, Schmitz, Christina, Sonié, Sandrine, Edery, Patrick
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501624/
https://www.ncbi.nlm.nih.gov/pubmed/32948248
http://dx.doi.org/10.1186/s40246-020-00281-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501624/
https://www.ncbi.nlm.nih.gov/pubmed/32948248
http://dx.doi.org/10.1186/s40246-020-00281-5

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