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Article

A new approach for molecular diagnosis of TAR syndrome.

Clinical biochemistry - 1 Jun 2014

Yassaee Vahid R, Hashemi-Gorji Feyzollah, Soltani Ziba, Poorhosseini Seyed Mohammad

Abstract excerpt

Thrombocytopenia-absent radius (TAR) syndrome is a rare genetic disorder inherited in an autosomal recessive fashion. In most patients chromosomes at 1q21.1 harbor a 200-kb deletion consisted of many genes, including RBM8A. We aimed to examine a cost-effective method for investigation a consanguineous family clinically diagnosed as TAR syndrome. A comprehensive sequencing of RBM8A identified several SNPs...

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Identifiers

PMID: 24769264
DOI: 10.1016/j.clinbiochem.2014.04.018

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