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Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort

Lixian Chang,Li Zhang,Wenbin An,Yang Wan,Yuli Cai,Yang Lan,Aoli Zhang,Lipeng Liu,Min Ruan,Xiaoming Liu,Ye Guo,Wenyu Yang,Xiaojuan Chen,Yumei Chen,Shuchun Wang,Yao Zou,Weiping Yuan,Xiaofan Zhu

Clinica Chimica Acta（2023）

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摘要
Our study investigated the clinical features and genotype/phenotype correlation of 148 Chinese pediatric FA patients, providing new insight into FA.
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关键词
Fanconi anemia,Phenotype,Genotype,Mutation,Children
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