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Article

Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11

23 Jan 2009

Abstract excerpt

We report a patient with a clinical and molecular diagnosis of LEOPARD syndrome (LS) associated with multiple granular cell tumors (MGCT). Bidirectional sequencing of exons 7, 12, and 13 of the PTPN11 gene revealed the T468M missense mutation in exon 12. This mutation has been previously reported in patients with LS. To our knowledge, this is the first report of MGCT associated with molecularly characterized LS...

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Identifiers

PMID: 19054014
DOI: 10.1111/j.1399-0004.2008.01100.x

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