Autor: Xiaoling Chen
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A novel frameshift RPL15 gene variant associated with hydrops fetalis and perinatal death
BackgroundThe heterozygous RPL15 gene (OMIM*604174) variants are associated with autosomal dominant Diamond-Blackfan anemia 12 (DBA12, OMIM#615550). Fewer than ten RPL15 variants have been reported to date, and they are commonly associated with hydrops…