The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects

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 symp...

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Bibliographic Details
Main Authors: Amanda Nagy, Francine Molay, Sarah Hargadon, Claudia Brito Pires, Natalie Grant, Lizbeth De La Rosa Abreu, Jin Yun Chen, Precilla D’Souza, Ellen Macnamara, Cynthia Tifft, Catherine Becker, Claudio Melo De Gusmao, Vikram Khurana, Ann M. Neumeyer, Florian S. Eichler
Format: Article
Language:English
Published: BMC 2024-02-01
Series:Orphanet Journal of Rare Diseases
Subjects:
TBL1XR1
Pierpont syndrome
Genetic diseases
Autism
Intellectual disability
Behavior
Online Access:https://doi.org/10.1186/s13023-024-03083-3

Internet

https://doi.org/10.1186/s13023-024-03083-3

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