Dystonia-deafness syndrome 1 caused by ACTB p.(Arg183Trp) de novo variant: one novel case extending the phenotypic spectrum

Neurogenetics 2026

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Authors: Silvestre Cuinat, Tiphaine Rouaud, Thomas Besnard, Stéphane Bezieau, Philippe Bordure, F. Espitalier, Irina Viakhireva-Dovganyuk, Alain Verloes, Marie‐Laure Vuillaume, Salim Khiati, Vincent Procaccio, Sandra Mercier
DOI: 10.1007/s10048-025-00875-y
Cited by: 0
References: 14

Fields of Study & Subjects

Metabolism and Genetic Disorders Fetal and Pediatric Neurological Disorders Genomics and Rare Diseases

Publication details

Journal / source
Neurogenetics
Volume
27
Issue
1
Pages
6–6
Publication date
8 January 2026
Language
EN