Associated Papers
A pathogenic NR2F1 gene variant disrupts transcriptional activity and causes severe neurodevelopmental delay in Bosch-Boonstra-Schaaf syndrome.
Liu J et al.
Hereditas, 2025
Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch-Boonstra-Schaaf optic atrophy syndrome in a Chinese patient.
Tang S et al.
Frontiers in Medicine, 2025
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