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Article

Aberrant splicing due to a novel RPS7 variant causes Diamond-Blackfan Anemia associated with spontaneous remission and meningocele.

International journal of hematology - 1 Dec 2020

Akram Talia, Fatima Ambrin, Klar Joakim, Hoeber Jan, Zakaria Muhammad, Tariq Muhammad, Baig Shahid M, Schuster Jens, Dahl Niklas

Abstract excerpt

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 on an affected mother and her daughter presenting with transfusion-dependent anemia. The mother showed mild physical abnormalities and entered spontaneous...

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Share to Anemia, Diamond-Blackfan
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32772263
DOI: 10.1007/s12185-020-02950-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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