Case Report: Novel <i>CNGA3</i> compound heterozygous variants cause achromatopsia in three patients from a family.

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第一作者： Xiaoqiang,Zhou

第一单位： Prenatal Diagnosis Center, Foshan Women and Children Hospital, Foshan, Guangdong, China.

作者： Xiaoqiang,Zhou ^[1] ; Yasi,Zhou ^[2] ; Shuijuan,Wu ^[1] ; Xiaoling,Guo ^[1] ; Liangfeng,Yao ^[3] ; Xingkun,Yang ^[4]

作者单位： Prenatal Diagnosis Center, Foshan Women and Children Hospital, Foshan, Guangdong, China. ^[1] Foshan pulisheng Biotechnology, Foshan, Guangdong, China. ^[2] Department of Radiology, Foshan Women and Children Hospital, Foshan, Guangdong, China. ^[3] Women and Children Medical Research Center , Foshan Women and Children Hospital, Foshan, Guangdong, China. ^[4]

关键词 CNGA3 gene achromatopsia genetic counseling genetic testing novel variant

DOI 10.3389/fgene.2024.1457569

PMID 39678380

发布时间 2025-01-04

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Frontiers in genetics

2024年15卷

1457569页

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Case Report: Novel <i>CNGA3</i> compound heterozygous variants cause achromatopsia in three patients from a family.

Frontiers in genetics

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Frontiers in genetics

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Case Report: Novel <i>CNGA3</i> compound heterozygous variants cause achromatopsia in three patients from a family.

Frontiers in genetics

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Frontiers in genetics

相关期刊

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