Dystonia-deafness syndrome caused by ACTB p.Arg183Trp...

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation

Skogseid, Inger Marie, Røsby, Oddveig, Konglund, Ane, Connelly, James P., Nedregaard, Bård, Jablonski, Greg Eigner, Kvernmo, Nadja, Stray-Pedersen, Asbjørg, Glover, Joel C.
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Volume:
10
Language:
english
Journal:
Journal of Neurodevelopmental Disorders
DOI:
10.1186/s11689-018-9235-z
Date:
December, 2018
File:
PDF, 2.82 MB
english, 2018
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