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Article

New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.

Current opinion in genetics & development - 1 Jun 2013

Albers Cornelis A, Newbury-Ecob Ruth, Ouwehand Willem H, Ghevaert Cedric

Abstract excerpt

Thrombocytopenia with absent radii (TAR) syndrome is a rare disorder combining specific skeletal abnormalities with a reduced platelet count. Rare proximal microdeletions of 1q21.1 are found in the majority of patients but are also found in unaffected parents. Recently it was shown that TAR syndrome is caused by the compound inheritance of a low-frequency noncoding SNP and a rare null allele in RBM8A, a gene...

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Share to Chromosome Duplication
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23602329
DOI: 10.1016/j.gde.2013.02.015

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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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New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome.PMID 23602329Read ↗

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Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.Semantic proximity Read ↗

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