Abstract:Pathogenic variants of the nuclear receptor subfamily 2 group F member 1
gene (NR2F1) are responsible for Bosch-Boonstra-Schaaf optic
atrophy syndrome (BBSOAS), an autosomal dominant disorder characterized
by optic atrophy associated with developmental delay and intellectual
disability, but with a clinical presentation which appears to be
multifaceted. We created the first public locus-specific database (LSDB)
dedicated to NR2F1. All variants and clinical cases reported in
the literature, as well as new unpubl… Show more
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