IRF2BPL gene variants with dystonia: one new Chinese case report

Abstract Background The carriers of damaging heterozygous variants in interferon regulatory factor 2 binding protein-like (IRF2BPL), encoding a member of the IRF2BP family of transcriptional regulators, may be affected by a variety of neurological symptoms, such as neurodevelopmental regression, lan...

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Príomhchruthaitheoirí: Fei Yang, Hui Li, Yi Dai, Ran Zhang, Jiang-tao Zhang
Formáid: Alt
Teanga:English
Foilsithe / Cruthaithe: BMC 2023-01-01
Sraith:BMC Neurology
Ábhair:
Rochtain ar líne:https://doi.org/10.1186/s12883-023-03077-x