WebBosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant syndrome of developmental delay, cortical vision loss with optic nerve atrophy, epilepsy, and autism spectrum disorder. Due to its many overlapping features with congenital disorders of glycosylation (CDG), the differential diagnosis between these ... WebApr 12, 2024 · A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review; Pathophysiological Heterogeneity of the BBSOA Neurodevelopmental Syndrome; Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic …
BBSOAS Parents Only Support Group - Facebook
WebFeb 19, 2016 · Private group for parents with children who have Bosch-Boonstra-Schaaf optic atrophy syndrome/NR2F1 mutations. WebFind sources: "Bosch-Boonstra-Schaaf optic atrophy syndrome" – news · newspapers · books · scholar · JSTOR (January 2024) (Learn how and when to remove this template message) Bosch-Boonstra-Schaaf optic atrophy syndrome Other names BBSOAS [1] This condition is inherited via autosomal dominant manner Causes mutations in the … top trap shooting shotguns
Learn the Symptoms of BBSOAS - NR2F1 Foundation
WebNov 6, 2024 · Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is an autosomal dominant disorder characterized by delayed development, moderately impaired … WebOct 7, 2024 · Rationale: Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by loss-of-function variants in the Nuclear … WebFeb 3, 2024 · NR2F1 works as a homodimer and contains a DNA-binding domain (DBD) formed by two zinc-finger domains as well as a ligand-binding domain (LBD). Loss-of-function variants in NR2F1 are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome, a neurodevelopmental disorder. top trap shotguns