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Article

Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations.

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

Rech Megan E, McCarthy John M, Chen Chun-An, Edmond Jane C, Shah Veeral S, Bosch Daniëlle G M, Berry Gerard T, Williams Linford, Madan-Khetarpal Suneeta, Niyazov Dmitriy, Shaw-Smith Charles, Kovar Erin M, Lupo Philip J, Schaaf Christian P

Abstract excerpt

Bosch-Boonstra-Schaaf Optic Atrophy Syndrome (BBSOAS) is an autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in NR2F1 and characterized by visual impairment, developmental delay, and intellectual disability. Here we report 18 new cases, provide additional clinical information for 9 previously reported individuals, and review an additional 27 published cases to present a total of...

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PMID: 32275123
DOI: 10.1002/ajmg.a.61580

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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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