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We hypothesise that some <jats:italic>PTPN11<\/jats:italic> 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 caf\u00e9 au lait spots.<\/jats:p>","DOI":"10.1136\/jmg.39.8.571","type":"journal-article","created":{"date-parts":[[2002,10,1]],"date-time":"2002-10-01T15:54:10Z","timestamp":1033487650000},"page":"571-574","source":"Crossref","is-referenced-by-count":232,"title":["<i>PTPN11<\/i> mutations in LEOPARD syndrome"],"prefix":"10.1136","volume":"39","author":[{"given":"E","family":"Legius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Schrander-Stumpel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Schollen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Pulles-Heintzberger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Gewillig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J-P","family":"Fryns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2002,8,1]]},"reference":[{"key":"2025101712165235000_39.8.571.1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1969.02100030654006"},{"key":"2025101712165235000_39.8.571.2","first-page":"205","volume":"41","year":"1972","journal-title":"Q J Med"},{"key":"2025101712165235000_39.8.571.3","doi-asserted-by":"crossref","first-page":"1220","DOI":"10.1056\/NEJM196612012752203","volume":"275","year":"1966","journal-title":"N Engl J Med"},{"key":"2025101712165235000_39.8.571.4","first-page":"469","volume":"63","year":"1963","journal-title":"J Pediatr"},{"key":"2025101712165235000_39.8.571.5","unstructured":"Van der Burgt I. 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