Case report
Open access
Sep 2026
A Heterozygous Variant in the GABBR2 Gene in a Girl With Clinical Classic Rett Syndrome
ABSTRACT Background Rett syndrome (RTT) is a neurodevelopmental disorder mainly affecting females and may start with seemingly normal early development but leads to developmental stagnation, regression, and characteristic neurological symptoms. While most cases involve MECP2 variants, other genes have been implicated i...
Jenny Klintenstedt, P. Baeck, I. Engerström et al.
· Molecular Genetics & Genomic... · 0 citations