{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T12:05:46Z","timestamp":1783944346315,"version":"3.55.0"},"reference-count":2,"publisher":"Oxford University Press (OUP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,2,1]]},"DOI":"10.1093\/qjmed\/hcw211","type":"journal-article","created":{"date-parts":[[2016,12,8]],"date-time":"2016-12-08T07:05:45Z","timestamp":1481180745000},"page":"115-116","source":"Crossref","is-referenced-by-count":0,"title":["NOTCH2 genetic mutation and acro-osteolysis\u2014the Hajdu\u2013Cheney syndrome"],"prefix":"10.1093","volume":"110","author":[{"given":"G.","family":"Jerzakowski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Lasek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Binkiewicz-Glinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Krygier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Zawadzki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2016,1,30]]},"reference":[{"key":"2026071307093144700_hcw211-B1","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng.779","article-title":"Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss","volume":"43","author":"Simpson","year":"2011","journal-title":"Nat Genet"},{"key":"2026071307093144700_hcw211-B2","first-page":"1","article-title":"Hajdu-Cheney syndrome: a case report with review of literature","volume":"8","author":"Shailesh","year":"2014","journal-title":"Radiol Case"}],"container-title":["QJM: An International Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/110\/2\/115\/10433746\/hcw211.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/qjmed\/article-pdf\/110\/2\/115\/10433746\/hcw211.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T11:09:37Z","timestamp":1783940977000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/qjmed\/article\/110\/2\/115\/2756180"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,1,30]]},"references-count":2,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,1,30]]},"published-print":{"date-parts":[[2017,2,1]]}},"URL":"https:\/\/doi.org\/10.1093\/qjmed\/hcw211","relation":{},"ISSN":["1460-2725","1460-2393"],"issn-type":[{"value":"1460-2725","type":"print"},{"value":"1460-2393","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2017,2]]},"published":{"date-parts":[[2016,1,30]]}}}