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Journal of
Genetics and Genome Research ISSN: 2378-3648

Citation

Asadi S (2019) The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome. J Genet Genome Res 5:043. doi.org/10.23937/2378-3648/1410043

Copyright

© 2019 Asadi S. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

SCIENTIFIC ADVOCACY | OPEN ACCESSDOI: 10.23937/2378-3648/1410043

The Role of Genetic Mutations in Gene RBM8A in Thrombocytopenia-Absent Radius Syndrome

Shahin Asadi*

Department of Molecular Biology & Genetics, Massachusetts, Division of Medical Genetics and Molecular Pathology Research, Harvard University of Medical Sciences, Massachusetts, USA

Abstract

TAR syndrome is a genetic disorder characterized by a lack of radial bone in the forearm and a lack of blood platelets. Thrombocytopenia prevents normal blood clotting and causes bleeding easily and often bleeds from the nose. The TAR syndrome is caused by the mutation of the RBM8A gene, which is based on the long arm of chromosome 1, which is based on 1q21.1.