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Article

Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.

American journal of medical genetics. Part A - 1 Jan 2020

Bojanek Erin K, Mosconi Matthew W, Guter Stephen, Betancur Catalina, Macmillan Carol, Cook Edwin H

Abstract excerpt

Nuclear receptor subfamily 2 group F member 1 (NR2F1) is an orphan receptor and transcriptional regulator that is involved in neurogenesis, visual processing and development, and cortical patterning. Alterations in NR2F1 cause Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS), a recently described autosomal dominant disorder characterized by intellectual and developmental disabilities and optic atrophy. This...

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Identifiers

PMID: 31729143
DOI: 10.1002/ajmg.a.61409
PMCID: PMC10355165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Clinical and neurocognitive issues associated with Bosch-Boonstra-Schaaf optic atrophy syndrome: A case study.PMID 31729143Read ↗

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