Bosch-Boonstra optic atrophy syndrome

Definition:

Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated with this disease.

References:

[1]. Daniëlle G M Bosch, et al. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 Feb 6;94(2):303-9. [Content Brief]

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