{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:42:35Z","timestamp":1790516555573,"version":"4.1.0"},"reference-count":1,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,4]]},"abstract":"<jats:p>Two profoundly mentally retarded, unrelated males are reported with an unidentified multiple congenital anomaly\/mental retardation syndrome, including early balding, patella luxations, small hands and feet, and hypogonadism, similar to a previous publication in this journal of a severely mentally retarded male patient with dysmorphic features.<\/jats:p>","DOI":"10.1136\/jmg.30.4.319","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"319-321","source":"Crossref","is-referenced-by-count":6,"title":["Profound mental retardation, characteristic facies with midfacial hypoplasia and premature frontotemporal balding, muscular hypotrophy, and small patellae in two unrelated male patients."],"prefix":"10.1136","volume":"30","author":[{"given":"J P","family":"Fryns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Thiry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Geutjens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E","family":"Smeets","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L","family":"Vinken","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H","family":"Van den Berghe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,4,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1136\/jmg.28.2.140","article-title":"Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism","volume":"28","author":"Scholte, F.A.; Begeer, J.H.; Van Essen, A.J.","year":"1991","unstructured":"Scholte FA, Begeer JH, Van Essen AJ. Unknown syndrome: mental retardation with dysmorphic features, early balding, patella luxations, acromicria, and hypogonadism. Med Genet 1991;28:140-2.","journal-title":"Med Genet"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.30.4.319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:01:38Z","timestamp":1760720498000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.30.4.319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,4]]},"references-count":1,"journal-issue":{"issue":"4","published-online":{"date-parts":[[1993,4,1]]},"published-print":{"date-parts":[[1993,4]]}},"alternative-id":["10.1136\/jmg.30.4.319"],"URL":"https:\/\/doi.org\/10.1136\/jmg.30.4.319","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,4]]}}}