Article
LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.
Actas dermo-sifiliograficas - 1 May 2015
Ramos-Geldres T T, Dávila-Seijo P, Duat-Rodríguez A, Noguera-Morel L, Ezquieta-Zubicaray B, Rosón-López E, Hernández-Martín A, Torrelo-Fernández A
Abstract excerpt
LEOPARD syndrome is an autosomal dominant disease caused by germline mutations in the RAS-MAPK (mitogen-activated protein kinase) pathway. LEOPARD is an acronym for the main manifestations of the syndrome, namely, multiple Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and sensorineural Deafness. None of these...
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