Non-coding structural variants disrupt FOXG1 transcriptional regulation in early neurodevelopment

Abstract The FOXG1 transcription factor is a crucial regulator of embryonic brain development. Pathogenic FOXG1 variants cause FOXG1 syndrome. Although structural variants in the non-coding region downstream of FOXG1 have been reported in 38 individuals with similar characteristics, the regulatory p...

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Hlavní autoři:	Lisa Hamerlinck, Eva D’haene, Michael B. Vaughan, Nore Van Loon, María del Rocío Pérez Baca, Sebastian Leimbacher, Michael Kosicki, Lara Colombo, Lukas Genbrugge, Lies Vantomme, Esperanza Daal, Luiza Lorena Pires Ramos, Daniela Mircheva Avdjieva-Tzavella, Himanshu Goel, Koen Devriendt, Albena Jordanova, Annelies Dheedene, Axel Visel, Björn Menten, Bert Callewaert, Sarah Vergult
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Nature Portfolio 2026-06-01
Edice:	Nature Communications
On-line přístup:	https://doi.org/10.1038/s41467-026-73770-1
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