Journal
SEMINARS IN THROMBOSIS AND HEMOSTASIS
Volume 37, Issue 6, Pages 707-712Publisher
THIEME MEDICAL PUBL INC
DOI: 10.1055/s-0031-1291381
Keywords
Skeletal anomalies; microdeletion 1q21.1; cow's milk allergy; megakaryocytic progenitors; presence of thumbs; radial anomalies
Categories
Ask authors/readers for more resources
Thrombocytopenia-absent radius (TAR) syndrome is a relatively uncommon condition characterized by absent radii with the presence of thumbs and congenital or early-onset thrombocytopenia that tends to resolve in childhood. The precise cause of this condition is unknown, although recently a microdeletion of chromosome 1q21.1 has been found in all investigated individuals. However, this microdeletion alone is not sufficient to cause TAR syndrome, and another, uncharacterized genetic alteration is thought to be involved in the pathogenesis.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available