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I want to know what's the genetic cause for tar syndrome?

1 doctor weighed in
Dr. Richard Roberts
Clinical Genetics

In brief: A bit complex

Thrombocytopena-Absent Radius may be caused by mutations in the RBM8A gene, or both a mutation and a deletion of the RMBA region.
.Absent Radius is associated with an absent thumb, except for this syndrome, so the diagnosis may be made clinically by noting TAR with thumb present. Milk allergy is very common, and can exacerbate low platelets http://www.ncbi.nlm.nih.gov/books/NBK23758/

In brief: A bit complex

Thrombocytopena-Absent Radius may be caused by mutations in the RBM8A gene, or both a mutation and a deletion of the RMBA region.
.Absent Radius is associated with an absent thumb, except for this syndrome, so the diagnosis may be made clinically by noting TAR with thumb present. Milk allergy is very common, and can exacerbate low platelets http://www.ncbi.nlm.nih.gov/books/NBK23758/
Dr. Richard Roberts
Dr. Richard Roberts
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