A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
Abstract
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 affected proband, his unaffected parents, and maternal grandfather. To explore the molecular and functional consequences of the variant, we performed...
Paper Details
Title
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
Published Date
Jul 16, 2018
Journal
Volume
2
Issue
3
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