A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

We investigated the genome of a 5-year-old male who presented with global developmental delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia of unknown origin. Whole genome sequencing (WGS) and mRNA sequencing (RNA-seq) were performed on a family having an affe...

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Detalles Bibliográficos
Autores principales: Hurst, Sarah E., Liktor-Busa, Erika, Moutal, Aubin, Parker, Sara, Rice, Sydney, Szelinger, Szabolcs, Senner, Grant, Hammer, Michael F., Johnstone, Laurel, Ramsey, Keri, Narayanan, Vinodh, Perez-Miller, Samantha, Khanna, May, Dahlin, Heather, Lewis, Karen, Craig, David, Wang, Edith H., Khanna, Rajesh, Nelson, Mark A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2018
Materias:
Molecular Bases of Health & Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373232/
https://www.ncbi.nlm.nih.gov/pubmed/32714589
http://dx.doi.org/10.1042/NS20180141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7373232/
https://www.ncbi.nlm.nih.gov/pubmed/32714589
http://dx.doi.org/10.1042/NS20180141

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