{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,27]],"date-time":"2026-01-27T05:54:14Z","timestamp":1769493254308,"version":"3.49.0"},"reference-count":0,"publisher":"Il Pensiero Scientifico Editore","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,2,1]]},"abstract":"<jats:p>We describe a delayed diagnosis of Di George syndrome, in a 51 yr-old woman, with past medical history of epilepsy, mental retardation, chronic psychosis, nephrocalcinosis. She presented facial dysmorphism, multiple encephalic calcifications, hypocalcemia and lymphopenia. A microdeletion of 22q 11.2 was detected by fluorescence in situ hybridization (FISH), confirming the clinical suspicion .<\/jats:p>","DOI":"10.1701\/1241.13707","type":"journal-article","created":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:39:23Z","timestamp":1769456363000},"source":"Crossref","is-referenced-by-count":0,"title":["Sindrome di Di George: una diagnosi non sempre pediatrica"],"prefix":"10.1701","volume":"104","author":[{"given":"Giorgio","family":"Bertola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Salvatore","family":"Giambona","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Bianchi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Girola","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio Antonio","family":"Berra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"55112","container-title":["Recenti Progressi in Medicina"],"original-title":[],"deposited":{"date-parts":[[2026,1,26]],"date-time":"2026-01-26T19:39:23Z","timestamp":1769456363000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.recentiprogressi.it\/articoli.php?archivio=yes&vol_id=1241&id=13707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,1]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013,2,1]]}},"URL":"https:\/\/doi.org\/10.1701\/1241.13707","relation":{},"ISSN":["0034-1193"],"issn-type":[{"value":"0034-1193","type":"print"}],"subject":[],"published":{"date-parts":[[2013,2,1]]}}}