Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient

Case Report: A de novo NR2F1 mutation and clinical characteristics of Bosch–Boonstra–Schaaf optic atrophy syndrome in a Chinese patient

PurposeThis study aimed to report the clinical characteristics, genetic findings, and treatment outcomes of a Chinese patient with Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) caused by a mutation in the NR2F1 gene.MethodA retrospective chart review was conducted, including the patient’s me...

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Bibliographic Details
Main Authors: Shuyu Tang, Tingshuai Jiang, Wenqi Su, Binqi Tang, Daoman Xiang, Jie Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-07-01
Series:Frontiers in Medicine
Subjects:
Bosch–Boonstra–Schaaf optic atrophy syndrome
developmental delay
NR2F1
optic atrophy
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2025.1542548/full
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https://www.frontiersin.org/articles/10.3389/fmed.2025.1542548/full

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