Article
Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.
BMC research notes - 22 Sept 2013
Bottillo Irene, Castori Marco, De Bernardo Carmelilia, Fabbri Romano, Grammatico Barbara, Preziosi Nicoletta, Scassellati Giovanna Sforzolini, Silvestri Evelina, Spagnuolo Antonella, Laino Luigi, Grammatico Paola
Abstract excerpt
BACKGROUND: Thrombocytopenia-absent radius syndrome is a rare autosomal recessive disorder characterized by megakaryocytic thrombocytopenia and longitudinal limb deficiencies mostly affecting the radial ray. Most patients are compound heterozygotes for a 200 kb interstitial microdeletion in 1q21.1 and a hypomorphic allele in RBM8A, mapping in the deleted segment. At the moment, the complete molecular...
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