Position effect at the SOX3 locus by an interchromosomal insertion causes hereditary spastic paraplegia

The American Journal of Human Genetics 2026 Open access

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Authors: Thorkild Terkelsen, Verónica Yumiceba, Joshua Kim, Uirá Souto Melo, Esben Axelgaard, Fabia Febbraro, Anders Vermelin Gunnarsson, Saranya Balachandran, Mikkel Dahl-Jessen, Rikke Christensen, Brock Andrew Peters, Asan
+6 more Thomas Thelle, Mette Nyegaard, Rasmus O. Bak, Mark Denham, Malte Spielmann, Uffe Birk Jensen
DOI: 10.1016/j.ajhg.2026.07.001
Cited by: 1
References: 67

Fields of Study & Subjects

Hereditary Neurological Disorders Genetic Neurodegenerative Diseases Genomics and Rare Diseases

Publication details

Journal / source
The American Journal of Human Genetics
Publisher
Elsevier BV
Volume
113
Issue
8
Pages
1736–1753
Publication date
24 July 2026
Language
EN