{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,13]],"date-time":"2026-03-13T18:00:25Z","timestamp":1773424825705,"version":"3.50.1"},"reference-count":14,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T00:00:00Z","timestamp":1301875200000},"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":[[2011,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Germline mutations in the<jats:italic>PTPN11<\/jats:italic>gene have been associated with Noonan syndrome (NS) and LEOPARD syndrome. Both germline and somatic mutations in this gene have been reported in association with malignancies. However, the<jats:italic>T507K<\/jats:italic>mutation in the<jats:italic>PTPN11<\/jats:italic>gene, has only been reported in malignancies and in a fetus with hydrops fetalis but not in a live patient with NS. We report the autopsy findings in a fetus with the<jats:italic>T507K<\/jats:italic>mutation who presented prenatally with hydrops fetalis, cystic hygroma and 46, XX karyotype. On autopsy, the patient was found to have testes, male external genitalia, but absent Wolffian ducts. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33873","type":"journal-article","created":{"date-parts":[[2011,4,4]],"date-time":"2011-04-04T21:44:09Z","timestamp":1301953449000},"page":"1136-1139","source":"Crossref","is-referenced-by-count":4,"title":["PTPN11 gene mutation associated with abnormal gonadal determination"],"prefix":"10.1002","volume":"155","author":[{"given":"Shailly","family":"Jain Ghai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Keating","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2011,4,4]]},"reference":[{"key":"e_1_2_4_2_1","first-page":"9","article-title":"Le syndrome de noonan. 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