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Article

LEOPARD Syndrome: Clinical Features and Gene Mutations

1 Jan 2012

Abstract excerpt

The RAS/MAPK pathway proteins with germline mutations in their respective genes are associated with some disorders such as Noonan, LEOPARD (LS), neurofibromatosis type 1, Costello and cardio-facio-cutaneous syndromes. LEOPARD is an acronym, mnemonic for the major manifestations of this disorder, characterized by multiple lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonic stenosis,...

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PMID: 23239957
DOI: 10.1159/000342251

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