Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum
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Dystonia-deafness syndrome 1 (DDS1) is a rare disorder caused by the p.(Arg183Trp) heterozygous variant in ACTB. Patients present with congenital/early-onset sensorineural deafness, then childhood/adult-onset generalized dystonia. We describe a 38 y.o patient ... ...
