The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects
Amanda Nagy,
Francine Molay,
Sarah Hargadon
et al.
Abstract:Background
TBL1XR1 encodes a F-box-like/WD40 repeat-containing protein that plays a role in transcription mediated by nuclear receptors and is a known genetic cause of neurodevelopmental disease of childhood (OMIM# 608628). Yet the developmental trajectory and progression of neurologic symptoms over time remains poorly understood.
Methods
We developed and distributed a survey to two closed Facebook groups devoted to families of patients with TBL1XR… Show more
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