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• W2108447730 abstract "LEOPARD syndrome is an autosomal dominant disorder with multiple lentigines, congenital cardiac abnormalities, ocular hypertelorism, and retardation of growth. Deafness and genital abnormalities are less frequently found. We report a father and daughter and a third, unrelated patient with LEOPARD syndrome. Recently, missense mutations in the <i>PTPN11</i> gene located in 12q24 were found to cause Noonan syndrome. All three cases of LEOPARD syndrome reported here have a Y279C mutation in the <i>PTPN11</i> gene. We hypothesise that some <i>PTPN11</i> mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots." @default.
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• W2108447730 date "2002-08-01" @default.
• W2108447730 modified "2023-09-26" @default.
• W2108447730 title "PTPN11 mutations in LEOPARD syndrome" @default.
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• W2108447730 doi "https://doi.org/10.1136/jmg.39.8.571" @default.
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