NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.

导出 LinkOut

翻译打印收藏纠错

作者： Benjamin,Billiet ^[1] ; Patrizia,Amati-Bonneau ^[2] ; Valérie,Desquiret-Dumas ^[3] ; Khadidja,Guehlouz ^[2] ; Dan,Milea ^[3] ; Philippe,Gohier ^[1] ; Guy,Lenaers ^[4] ; Delphine,Mirebeau-Prunier ^[1] ; Johan T,den Dunnen ^[2] ; Pascal,Reynier ^[2] ; Marc,Ferré ^[3]

作者单位： Département d'Ophtalmologie, Centre Hospitalier Universitaire d'Angers, Angers, France. ^[1] Unité MITOVASC, Équipe Mitolab, SFR ICAT, INSERM, CNRS, Université d'Angers, Angers, France. ^[2] Laboratoire de Biochimie et Biologie moléculaire, Centre Hospitalier Universitaire d'Angers, Angers, France. ^[3] Singapore Eye Research Institute, Singapore National Eye Centre, Duke-NUS, Singapore. ^[4] Department of Human Genetics, Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands. ^[5]

关键词 BBSOAS Bosch-Boonstra-Schaaf optic atrophy syndrome COUP transcription factor 1 protein COUP-TF1 NR2F1 database neurodegenerative disorders nuclear receptor subfamily 2 group F member 1 ontology optic atrophy

主题词 COUP转录因子Ⅰ(COUP Transcription Factor I);数据库, 遗传学(Databases, Genetic);人类(Humans);肌张力过低(Muscle Hypotonia);视神经萎缩, 遗传性(Optic Atrophies, Hereditary);视神经萎缩(Optic Atrophy)

DOI 10.1002/humu.24305

PMID 34837429

发布时间 2022-05-31

翻译满意度评价：

准确一般字义偏差语意偏离译文作用小提交