{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T10:22:27Z","timestamp":1790677347476,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,4]],"date-time":"2005-06-04T00:00:00Z","timestamp":1117843200000},"content-version":"vor","delay-in-days":6729,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1987,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two sibs and their mother were affected with a syndrome like the Rubinslein\u2010Taybi syndrome. All three individuals had broad terminal phalanges of the thumbs and great toes, antimongoloid slant of the palpebral fissures, and characteristic facial appearance with beaked noses. Four sibs of the mother had broad thumbs, suggesting a familial pattern. So far there has been no report of dominant transmission of the Rubinstein\u2010Taybi syndrome. This family bears close resemblance to the Rubinstein\u2010Taybi syndrome, which is transmitted as an autosomal or X\u2010linked dominant trait. Inasmuch as the expressivity of the syndrome may be variable, we propose that a thorough family investigation is indicated in all apparently sporadic cases of Rubinstein\u2010Taybi syndrome. Familial cases may be more common than realized and require appropriate genetic counseling.<\/jats:p>","DOI":"10.1002\/ajmg.1320260115","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T02:45:18Z","timestamp":1118544318000},"page":"85-93","source":"Crossref","is-referenced-by-count":34,"title":["Dominant inheritance of a syndrome similar to Rubinstein\u2010Taybi"],"prefix":"10.1002","volume":"26","author":[{"given":"Patricia","family":"Cotsirilos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"JoEllyn C.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuben","family":"Matalon","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":[[2005,6,4]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb01884.x"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1972.02110180099014"},{"key":"e_1_2_1_4_1","first-page":"765","article-title":"La sindrome di Rubinstein\u2013;Taybi, presentazione di due nuovi casi","volume":"34","author":"De Toni T","year":"1982","journal-title":"Minerva Pediatr"},{"key":"e_1_2_1_5_1","first-page":"89","article-title":"Le syndrome de Rubinstein\u2010Taybi, discussion des formes incompl\u00e8tes et familiales","volume":"25","author":"Hayem F","year":"1970","journal-title":"Pediatrie"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80214-7"},{"key":"e_1_2_1_7_1","first-page":"926","volume-title":"Mendelian Inheritance in Man. Catalogues of Autosomal Dominant, Autosomal Recessive and X\u2010linkcd Phenotypes","author":"McKusick VA","year":"1983"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1963.02080040590010"},{"key":"e_1_2_1_9_1","volume-title":"Clinical Delineation of Birth Defects: Part II, Malformation Syndromes","author":"Rubinstein JH","year":"1969"},{"issue":"2","key":"e_1_2_1_9_2","first-page":"25","author":"the National Foundation\u2010March of Dimes","journal-title":"BD:OAS"},{"key":"e_1_2_1_10_1","first-page":"157","volume-title":"Birth Defects Compendium","author":"Rubinstein JH","year":"1979"},{"key":"e_1_2_1_11_1","first-page":"230","article-title":"The Rubinstein\u2010Taybi syndrome: Chromosomal studies","volume":"25","author":"Simpson NE","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_1","first-page":"225","article-title":"The Rubinstein\u2010Taybi syndrome: Familial and dermatoglyphic data","volume":"25","author":"Simpson NE","year":"1973","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_1","first-page":"17","article-title":"Rubinstein's syndrome in two siblings","volume":"15","author":"Takeuchi M","year":"1966","journal-title":"Gunma Med Sci"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb00434.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320260115","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320260115","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T13:20:36Z","timestamp":1695820836000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320260115"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1987,1]]}},"alternative-id":["10.1002\/ajmg.1320260115"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320260115","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,1]]}}}