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
De Novo Pathogenic Variant in FBRSL1, Non OMIM Gene Paralogue AUTS2, Causes a Novel Recognizable Syndromic Manifestation with Intellectual Disability; An Additional Patient and Review of the Literature.
Bukvic N et al.
Genes, 2024
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