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...

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ग्रंथसूची विवरण

मुख्य लेखकों:	Ivana Bogavac, Ljiljana Jeličić, Maša Marisavljević, Milica Ćirović, Jelena Ðorđević, Ivan Krgović, Miško Subotić
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	MDPI AG 2025-10-01
श्रृंखला:	Pediatric Reports
विषय:	Bosch–Boonstra–Schaaf optic atrophy syndrome cognition speech and language
ऑनलाइन पहुंच:	https://www.mdpi.com/2036-7503/17/6/112
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