{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T11:02:31Z","timestamp":1789642951877,"version":"4.0.0"},"reference-count":10,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T00:00:00Z","timestamp":1241481600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,6]]},"abstract":"<jats:p>Noonan\u2010like\/multiple giant cell lesion syndrome is a rare condition with phenotypic overlap with Noonan syndrome (NS) and cherubism. <jats:italic>PTPN11 <\/jats:italic>gene mutations were described in several individuals with this phenotype, and it is recently considered as a variant phenotype of NS. Gain\u2010of\u2010function mutations in the <jats:italic>SOS1 <\/jats:italic>gene were recently described as the second major cause of NS. Here, we report for the first time the involvement of <jats:italic>SOS1 <\/jats:italic>gene in a family with the Noonan\u2010like\/multiple giant cell lesion phenotype.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01149.x","type":"journal-article","created":{"date-parts":[[2009,5,5]],"date-time":"2009-05-05T08:53:33Z","timestamp":1241513613000},"page":"568-571","source":"Crossref","is-referenced-by-count":27,"title":["<i>SOS1<\/i>: a new player in the Noonan\u2010like\/multiple giant cell lesion syndrome"],"prefix":"10.1111","volume":"75","author":[{"given":"N","family":"Hanna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Parfait","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"IM","family":"Talaat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Vidaud","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"HH","family":"Elsedfy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,6]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/88832"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024091"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.051276"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1939"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1926"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1748"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046300"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2078"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2073"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01149.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01149.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,10]],"date-time":"2023-10-10T02:06:05Z","timestamp":1696903565000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01149.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,6]]},"references-count":10,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2009,6]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01149.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01149.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,6]]}}}