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A fetus with Bosch-Boonstra-Schaaf optic atrophy syndrome characterized by bilateral ventricle widening: A case report and related literature review

Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a rare neurodevelopmental disorder caused by loss-of-function variants in the Nuclear Receptor Subfamily 2 Group F Member 1 (NR2F1). Here, we report a case of fetal BBSOAS. The fetus is typically featured by bilateral ventricle widening in the...

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Detalles Bibliográficos
Autores principales:	Sun, Yu, Guo, Lili, Sha, Jing, Tao, Huimin, Wang, Xuezhen, Liu, Ying, Zhai, Jingfang, Wu, Jiebin, Zhao, Yongxiu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9543064/ https://www.ncbi.nlm.nih.gov/pubmed/36221391 http://dx.doi.org/10.1097/MD.0000000000030558

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