Late presentation of CHARGE syndrome with heart failure.
作者信息
Rebello Alex, Rodrigues Ann Maria, Kaliyappan Anupriya
机构信息
Department of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Department of Ophthalmology, Government Medical College and Hospital, Chandigarh, India.
出版信息
Int J Cardiol Congenit Heart Dis. 2021 Jan 1;2:100073. doi: 10.1016/j.ijcchd.2020.100073. eCollection 2021 Feb.
Abstract
摘要
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本文引用的文献
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CHARGE syndrome: an update.CHARGE综合征：最新进展
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2
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.110例CHARGE综合征患者的CHD7突变谱及基因型-表型相关性
Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29.
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Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.缺损、先天性心脏病和后鼻孔闭锁合并多种异常：CHARGE综合征。
J Pediatr. 1981 Aug;99(2):223-7. doi: 10.1016/s0022-3476(81)80454-4.
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Spectrum of congenital heart disease in CHARGE association.CHARGE综合征相关先天性心脏病的谱系
J Pediatr. 1987 Apr;110(4):576-8. doi: 10.1016/s0022-3476(87)80555-3.
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