Chen CA, et alThe expanding clinical phenotype of Bosch-Boonstra-Schaaf Optic Atrophy syndrome: 20 new cases, and possible genotype-phenotype correlations. Genet Med. 2016;18(11):1143-1150. PMID: 26986877.

Bosch DG, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014;94(2):303-309. PMID: 24462372.

Al-Kateb H, et al. NR2F1 haploinsufficiency is associated with optic atrophy, dysmorphism and global developmental delay. Am J Med Genet A. 2013;161A(2):377-381. PMID: 23300014.


Where can more information about Bosch-Boonstra-Schaaf optic atrophy syndrome be found?

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