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Compound Heterozygous B3GALNT2 Mutations in a Fetus with Encephalocele: A Case Report

Dandan Ling,Wanqin Xie,Xiao Mao, Shengzhi Yang,Haiyan Pang, Ping Yang, Ping Shen,Yabing Tang

CLINICAL CASE REPORTS（2024）

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关键词
B3GALNT2,dystroglycanopathy,Encephalocele,neural tube defects,prenatal diagnosis
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