{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T06:19:04Z","timestamp":1777875544821,"version":"3.51.4"},"reference-count":4,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2017,10,1]],"date-time":"2017-10-01T00:00:00Z","timestamp":1506816000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Thyroid\u00ae"],"published-print":{"date-parts":[[2017,10]]},"abstract":"<jats:p>\n                    We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the\n                    <jats:italic toggle=\"yes\">D631Y<\/jats:italic>\n                    <jats:italic toggle=\"yes\">RET<\/jats:italic>\n                    mutation resulting in an atypical phenotype. The index case was a 24-year-old man with history of recurrent anaplastic ependymoma incidentally found to have the\n                    <jats:italic toggle=\"yes\">D631Y<\/jats:italic>\n                    <jats:italic toggle=\"yes\">RET<\/jats:italic>\n                    mutation. At first assessment, four family members had evidence of large pheochromocytomas. One patient was found to have micromedullary thyroid cancer at 79 years of age. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a\n                    <jats:italic toggle=\"yes\">D631Y<\/jats:italic>\n                    <jats:italic toggle=\"yes\">RET<\/jats:italic>\n                    mutation most commonly present with pheochromocytomas. Medullary thyroid cancer is a less common part of the syndrome when compared with other\n                    <jats:italic toggle=\"yes\">RET<\/jats:italic>\n                    mutations.\n                  <\/jats:p>","DOI":"10.1089\/thy.2016.0536","type":"journal-article","created":{"date-parts":[[2017,7,27]],"date-time":"2017-07-27T00:20:56Z","timestamp":1501114856000},"page":"1332-1334","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinical Features of a Family with Multiple Endocrine Neoplasia Type 2A Caused by the\n                    <i>D631Y<\/i>\n                    <i>RET<\/i>\n                    Mutation"],"prefix":"10.1177","volume":"27","author":[{"given":"Naykky Singh","family":"Ospina","sequence":"first","affiliation":[{"name":"University of Florida"},{"name":"Mayo Clinic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spyridoula","family":"Maraka","sequence":"additional","affiliation":[{"name":"Mayo Clinic"},{"name":"University of Arkansas for Medical Sciences and the Central Arkansas Veterans Health Care System"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diane","family":"Donegan","sequence":"additional","affiliation":[{"name":"Mayo Clinic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John C.","family":"Morris","sequence":"additional","affiliation":[{"name":"Mayo Clinic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,10,1]]},"reference":[{"key":"e_1_3_2_2_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2014.0335"},{"key":"e_1_3_2_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/cncr.28661"},{"key":"e_1_3_2_4_2","doi-asserted-by":"publisher","DOI":"10.1089\/thy.2006.16.609"},{"key":"e_1_3_2_5_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1295497"}],"container-title":["Thyroid\u00ae"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/thy.2016.0536","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2016.0536","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/thy.2016.0536","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T22:02:45Z","timestamp":1777586565000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/thy.2016.0536"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,10]]},"references-count":4,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2017,10]]}},"alternative-id":["10.1089\/thy.2016.0536"],"URL":"https:\/\/doi.org\/10.1089\/thy.2016.0536","relation":{},"ISSN":["1050-7256","1557-9077"],"issn-type":[{"value":"1050-7256","type":"print"},{"value":"1557-9077","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,10]]}}}