PhenomeGene — Human Disease Gene Website SeriesFBRSL1

Publications

Ufartes R, et al. De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome. Hum Genet. 2020; 139, 1363-1379. PMID: 32424618.

Pauli S, et al. Comparing a Novel Malformation Syndrome Caused by Pathogenic Variants in FBRSL1 to AUTS2 Syndrome.Front Cell Dev Biol. 2021; 9:779009. PMID: 34805182.

Berger H, et al. Fbrsl1 is required for heart development in Xenopus laevis and de novo variants in FBRSL1 can cause human heart defects. Dis Model Mech. 2024; 17. PMID: 38501224.

Bukvic N, et al. 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.Genes (Basel). 2024; 15:826. PMID: 39062605