{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:18:56Z","timestamp":1760782736499},"reference-count":2,"publisher":"Wiley","issue":"1-2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4797,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A previously unreported X\u2010linked MCA\/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X\u2010linked dominant trait with decreased penetrance and expressivity in carrier females.<\/jats:p>","DOI":"10.1002\/ajmg.1320430168","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:41:29Z","timestamp":1118551289000},"page":"452-457","source":"Crossref","is-referenced-by-count":22,"title":["New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria"],"prefix":"10.1002","volume":"43","author":[{"given":"M.","family":"Zollino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Mastroiacovo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Zampino","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Mariotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Neri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380204"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300132"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320430168","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320430168","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T17:17:16Z","timestamp":1693502236000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320430168"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,4,15]]},"references-count":2,"journal-issue":{"issue":"1-2","published-print":{"date-parts":[[1992,4,15]]}},"alternative-id":["10.1002\/ajmg.1320430168"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320430168","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,4,15]]}}}