{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:05:24Z","timestamp":1761717924386},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2004,3,23]],"date-time":"2004-03-23T00:00:00Z","timestamp":1080000000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A de novo 3\u2010bp deletion (179\u2013181delGTG) was identified at exon 3 of the <jats:italic>PTPN11<\/jats:italic> gene in a female infant with severe Noonan phenotype including hydrops fetalis and juvenile myelomonocytic leukemia. Since the 3\u2010bp deletion is predicted to result in loss of the 60th glycine in the N\u2010SH2 domain that is directly involved in the intramolecular interaction between the N\u2010SH2 and the PTP domains of the PTPN11 protein, this mutation would disrupt the N\u2010SH2\/PTP binding in the absence of a phosphopeptide, leading to an excessive phosphatase activity. The results expand the spectrum of <jats:italic>PTPN11<\/jats:italic> mutations in Noonan syndrome (NS), and suggest that a <jats:italic>PTPN11<\/jats:italic> mutation leads to a wide range of clinical features of Noonan syndrome. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30029","type":"journal-article","created":{"date-parts":[[2004,4,15]],"date-time":"2004-04-15T19:05:03Z","timestamp":1082055903000},"page":"63-66","source":"Crossref","is-referenced-by-count":28,"title":["A 3\u2010bp deletion mutation of <i>PTPN11<\/i> in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia"],"prefix":"10.1002","volume":"128A","author":[{"given":"Rie","family":"Yoshida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masafumi","family":"Miyata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshiro","family":"Nagai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,3,23]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.6.2197"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70273-7"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199911000-00014"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/excr.1999.4668"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-199703000-00019"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)80938-1"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1471-4914(00)01864-5"},{"key":"e_1_2_4_9_1","doi-asserted-by":"crossref","first-page":"3529","DOI":"10.1210\/jcem.87.8.8694","article-title":"PTPN11 (protein\u2010tyrosine phosphatase, nonreceptor\u2010type 11) mutations in seven Japanese patients with Noonan syndrome","volume":"87","author":"Kosaki K","year":"2002","journal-title":"J Clin Endocrinol Metab"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10129"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210312"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200935"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200915"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200212000-00017"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng772"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/340847"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1156"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320270412"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30029","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30029","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T15:13:46Z","timestamp":1697642026000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30029"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,3,23]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2004,7]]}},"alternative-id":["10.1002\/ajmg.a.30029"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30029","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,3,23]]}}}