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Thrombocytopenia-absent radius syndrome.
Semin Thromb Hemost. 2011 Sep; 37(6):707-12.ST

Abstract

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.

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Authors+Show Affiliations

Toriello HV
Department of Clinical Genetics, Spectrum Health Hospitals, Grand Rapids, Michigan, USA. Toriello@msu.edu

MeSH

Abnormalities, MultipleChildChromosome DeletionChromosomes, Human, Pair 1Genetic Predisposition to DiseaseHumansRadiusSyndromeThrombocytopeniaUpper Extremity Deformities, Congenital

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

22102274

Citation

Toriello, Helga V.. "Thrombocytopenia-absent Radius Syndrome." Seminars in Thrombosis and Hemostasis, vol. 37, no. 6, 2011, pp. 707-12.
Toriello HV. Thrombocytopenia-absent radius syndrome. Semin Thromb Hemost. 2011;37(6):707-12.
Toriello, H. V. (2011). Thrombocytopenia-absent radius syndrome. Seminars in Thrombosis and Hemostasis, 37(6), 707-12. https://doi.org/10.1055/s-0031-1291381
Toriello HV. Thrombocytopenia-absent Radius Syndrome. Semin Thromb Hemost. 2011;37(6):707-12. PubMed PMID: 22102274.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thrombocytopenia-absent radius syndrome. A1 - Toriello,Helga V, Y1 - 2011/11/18/ PY - 2011/11/22/entrez PY - 2011/11/22/pubmed PY - 2012/2/4/medline SP - 707 EP - 12 JF - Seminars in thrombosis and hemostasis JO - Semin Thromb Hemost VL - 37 IS - 6 N2 - 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. SN - 1098-9064 UR - https://www.unboundmedicine.com/medline/citation/22102274/Thrombocytopenia_absent_radius_syndrome_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-0031-1291381 DB - PRIME DP - Unbound Medicine ER -