Associated Papers
De novo truncating variant in the FBRSL1 gene caused neurodevelopmental disorders, epilepsy, congenital heart disease, and facial dysmorphism.
Xu D et al.
Experimental Neurology, 2026
Fbrsl1 is required for cranial neural crest development and reflects a conserved function of the human disease-associated protein.
Gerstner S et al.
Disease Models & Mechanisms, 2025
FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.
Kastens G et al.
Human Genetics, 2025
Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects.
Berger H et al.
Disease Models & Mechanisms, 2024
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome.
Ufartes R et al.
Human Genetics, 2020
Select a paper to view details