Article
Clinicopathological features of a kindred with SCG5-GREM1-associated hereditary mixed polyposis syndrome.
Human pathology - 1 Feb 2017
Plesec Thomas, Brown Kathryn, Allen Charles, A Burke Carol, Church James, Kalady Matthew, LaGuardia Lisa, O'Malley Margaret, Heald Brandie
Abstract excerpt
Since first characterized in 1997, patients with hereditary mixed polyposis syndrome (HMPS) have been difficult to identify because of lack of well-established diagnostic criteria. Recently, HMPS was found to be caused by a duplication on chromosome 15 spanning the 3' end of the SCG5 gene and a region upstream of the GREM1 locus. Clinical testing for the duplication is available; however, the clinical...
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