{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T09:57:50Z","timestamp":1756461470853},"reference-count":6,"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 have studied 2 Egyptian sibs (the offspring of normal first cousins) with congenital cataract, hypertrichosis, mental retardation, and normal chromosomes. Review showed that the condition of our patients was not similar to any previously reported entity. POSSUM lists 84 syndromes with any of the above 3 main traits. Two disorders with cataract and mental retardation, Martsolf syndrome and Mollica\u2013Pavone\u2013Anterer syndrome, have overlapping manifestations and therefore are particularly differentiated from our cases. We suggest that the association of congenital cataract, hypertrichosis, and mental retardation observed in this report represents a new autosomal recessive syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.1320410409","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:31:54Z","timestamp":1118550714000},"page":"432-433","source":"Crossref","is-referenced-by-count":20,"title":["Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome"],"prefix":"10.1002","volume":"41","author":[{"given":"Samia A.","family":"Temtamy","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdel Hamid H.","family":"Sinbawy","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","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.6.397"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441986"},{"key":"e_1_2_1_4_1","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_5_1","first-page":"463","article-title":"Short stature, mental retardation and ocular aberrations in three siblings","volume":"27","author":"Mollica F","year":"1972","journal-title":"Helv Pediat Acta"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.4.308"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.25.4.267"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:27:47Z","timestamp":1698064067000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,15]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,12,15]]}},"alternative-id":["10.1002\/ajmg.1320410409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410409","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]]}}}