Article

NR2F1 database: 111 variants and 83 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome

2021-06-29

Abstract excerpt

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)...

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Literature Corpus work: 1c07a063-e287-52f1-b8f6-dd78c23041e1
DOI: 10.22541/au.162499324.41147632/v1

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