Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Movement Disorders Clinical Practice 2026 Open access

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Authors: Lisa Buikema, Matej Lokar, Saman Vinke, Borut Peterlin, Gaber Bergant, Dejan Georgiev
DOI: 10.1002/mdc3.70531
Cited by: 0
References: 8

Abstract

Contains fulltext : 333520.pdf (Publisher’s version ) (Open Access)

Fields of Study & Subjects

Neurological disorders and treatments Genomics and Rare Diseases Neurological diseases and metabolism

Publication details

Journal / source
Movement Disorders Clinical Practice
Volume
13
Issue
6
Pages
1550–1553
Publication date
12 January 2026
Language
EN