{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T22:53:39Z","timestamp":1780354419936,"version":"3.54.1"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":6028,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1988,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a 3\u2010year\u2010old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond\u2010shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted\u2010V\u2010shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader\u2010Willi syndrome, and is likely inherited as an X\u2010linked recessive trait. Preliminary studies with DNA probes are consistent with an X\u2010linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.<\/jats:p>","DOI":"10.1002\/ajmg.1320310404","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:53:04Z","timestamp":1118537584000},"page":"741-751","source":"Crossref","is-referenced-by-count":36,"title":["Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: A new X\u2010linked mental retardation syndrome"],"prefix":"10.1002","volume":"31","author":[{"given":"Albert E.","family":"Chudley","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R. Brian","family":"Lowry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David I.","family":"Hoar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/j.0954-6820.1962.tb04162.x","article-title":"An X\u2010linked recessively inherited syndrome characterized by grave mental deficiency, epilepsy and endocrine disorder","volume":"171","author":"B\u00f6rjeson M","year":"1962","journal-title":"Acta Med Scan"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170211"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200118"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00591074"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1159\/000132178"},{"key":"e_1_2_1_7_1","first-page":"401","article-title":"Molecular diagnosis: New horizons in medicine","volume":"33","author":"Hoar DI","year":"1987","journal-title":"Can Fam Phys"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/15.15.6295"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170131"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320090106"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010305"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170103"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(77)90025-7"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80349-2"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(79)80350-9"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320310404","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320310404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T16:18:46Z","timestamp":1706285926000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320310404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1988,12]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1988,12]]}},"alternative-id":["10.1002\/ajmg.1320310404"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320310404","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1988,12]]}}}