Article
PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes.
Clinical genetics - 1 Oct 2014
Chen X-Y, Lu F, Wang Y-M, Yang Y, Wei G-Q, Wu D, Wang L-F, Wu Y-M
Abstract excerpt
Lhermitte-Duclos disease (LDD), a neurological manifestation of Cowden syndrome (CS), is a rare and benign cerebellar disorder, featured by dysplastic cerebellar ganglion cells which replace granular and Purkinje cells. Phosphatase and Tensin Homolog (PTEN) is confirmed as the susceptibility gene for CS which represents the most complex features and is not easily recognizable. We reported two index patients with...
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