Language and Cognitive Features in a Girl with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare neurological condition caused by a disruption in the NR2F-1 gene. The most common clinical features are optic atrophy and intellectual and developmental delay. This case report aims to describe the cognitive and language prof...

Celý popis

Podrobná bibliografie

Hlavní autoři:	Ivana Bogavac, Ljiljana Jeličić, Maša Marisavljević, Milica Ćirović, Jelena Ðorđević, Ivan Krgović, Miško Subotić
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2025-10-01
Edice:	Pediatric Reports
Témata:	Bosch–Boonstra–Schaaf optic atrophy syndrome cognition speech and language
On-line přístup:	https://www.mdpi.com/2036-7503/17/6/112
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!