{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,7]],"date-time":"2025-11-07T18:50:48Z","timestamp":1762541448017},"reference-count":4,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":4922,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.<\/jats:p>","DOI":"10.1002\/ajmg.1320410407","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:31:54Z","timestamp":1118550714000},"page":"423-425","source":"Crossref","is-referenced-by-count":11,"title":["Apparently new MCA\/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies"],"prefix":"10.1002","volume":"41","author":[{"given":"S.","family":"Kapur","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H. V.","family":"Toriello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"64","article-title":"Anophthalmia, microcephaly, hypotonia, hypogonadism, failure to thrive, and developmental delay","volume":"1","author":"Al Frayh Facharzt","year":"1987","journal-title":"Dysmorphol Clin Genet"},{"issue":"3","key":"e_1_2_1_3_1","first-page":"8","article-title":"Ocular defects and dysmorphic features in three generations","volume":"2","author":"Edwards JG","year":"1984","journal-title":"J Clin Dysmorphol"},{"key":"e_1_2_1_4_1","volume-title":"Smith's Recognizable Patterns of Inheritance","author":"Jones K","year":"1988"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80477-8"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410407","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410407","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:28:30Z","timestamp":1698064110000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410407"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,15]]},"references-count":4,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,12,15]]}},"alternative-id":["10.1002\/ajmg.1320410407"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410407","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12,15]]}}}