Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele
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DOI: 10.1007/s12185-020-02950-6
Abstract: Diamond-Blackfan Anemia (DBA) is a congenital pure red cell aplasia caused by heterozygous variants in ribosomal protein genes. The hematological features associated with DBA are highly variable and non-hematological abnormalities are common. We report herein… read more here.
Keywords: spontaneous remission; anemia; rps7 variant; rps7 ... See more keywords