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Article

Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.

British journal of haematology - 1 Nov 2017

Manukjan Georgi, Bösing Hendrik, Schmugge Markus, Strauß Gabriele, Schulze Harald

Abstract excerpt

Thrombocytopenia absent radii (TAR) syndrome is clearly defined by the combination of radial aplasia and reduced platelet counts. The genetics of TAR syndrome has recently been resolved and comprises a microdeletion on Chromosome 1 including the RBM8A gene and a single nucleotide polymorphism (SNP) either at the 5' untranslated region (5'UTR) or within the first intron of RBM8A. Although phenotypically readily...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 28857120
DOI: 10.1111/bjh.14913

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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