Article
Two distinct thyroid tumours in a patient with Cowden syndrome carrying both a 10q23 and a mitochondrial DNA germline deletion.
Journal of medical genetics - 1 Nov 2011
Pradella Laura Maria, Zuntini Roberta, Magini Pamela, Ceccarelli Claudio, Neri Iria, Cerasoli Serenella, Graziano Claudio, Gasparre Giuseppe, Turchetti Daniela
Abstract excerpt
BACKGROUND: Cowden syndrome (CS) is an autosomal dominant disorder characterised by macrocephaly, specific mucocutaneous features and predisposition to benign and malignant tumours. Detectable mutations in the PTEN gene account for 80-85% of cases. METHODS/RESULTS: Here, the authors report a patient with macrocephaly and typical CS mucocutaneous features who developed dysplastic cerebellar gangliocytoma and two...
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