An Overview of UBTF Neuroregression Syndrome

An Overview of UBTF Neuroregression Syndrome

Recently, a recurrent de novo dominant mutation in <i>UBTF</i> (c.628G>A, p.Glu210Lys; <i>UBTF</i> E210K) was identified as the cause of a neurological disorder which has been named UBTF Neuroregression Syndrome (UNS), or Childhood-Onset Neurodegeneration with Brain Atroph...

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Bibliographic Details
Main Authors: Anneliesse A. Braden, Jianfeng Xiao, Roderick Hori, Chester Brown, Mohammad Moshahid Khan
Format: Article
Language:English
Published: MDPI AG 2024-02-01
Series:Brain Sciences
Subjects:
childhood neurological disorders
neurodevelopment
neurodegeneration
UBTF
DNA damage response
behavioral symptoms
Online Access:https://www.mdpi.com/2076-3425/14/2/179

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