Bosch-Boonstra-Schaaf optic atrophy syndromedevelopmental and epileptic encephalopathy+1 moreResearch
A study identifies a de novo NR2F1 c.330 C>A variant linked to Bosch-Boonstra-Schaaf optic atrophy syndrome, which presents with early-onset developmental and epileptic encephalopathy. This discovery enhances understanding of the genetic underpinnings of these conditions.
de novo nr2f1 c 330 c a variant in bosch boonstra schaaf optic atrophy syndrome presenting with early onset developmental and epileptic encephalopathy
Original title: “A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy.”