{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,3,31]],"date-time":"2025-03-31T02:51:15Z","timestamp":1743389475464},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T00:00:00Z","timestamp":1259020800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2009,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The Rubinstein\u2013Taybi syndrome (RTS; OMIM 180849) is a well\u2010defined mental retardation\/multiple congenital anomalies (MR\/MCA) syndrome characterized by postnatal growth retardation, microcephaly, specific facial features, broad thumbs and halluces, and MR of variable degree. Ten percent of patients with RTS have a microdeletion 16p13.3, 40\u201350% carry a mutation of the<jats:italic>CREBBP<\/jats:italic>gene and another 3% have a mutation in the<jats:italic>EP300<\/jats:italic>gene. In the remaining patients with clinically suspected RTS no mutation can be detected. Here we describe two patients with an RTS phenotype, one with a mutation in the<jats:italic>CREBBP<\/jats:italic>gene and the other without a detectable<jats:italic>CREBBP<\/jats:italic>or<jats:italic>EP300<\/jats:italic>mutation and without a chromosomal imbalance on high\u2010resolution arrays. Both patients present with the characteristic facial RTS phenotype, broad thumbs and big toes, mild MR, formation of keloids and glaucoma, but without postnatal growth retardation or microcephaly. In addition, they have both congenital camptodactyly of third (and fourth) fingers, which has not reported in RTS previously. We suggest that they represent a clinical subtype of RTS. \u00a9 2009 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.33129","type":"journal-article","created":{"date-parts":[[2009,11,24]],"date-time":"2009-11-24T19:12:54Z","timestamp":1259089974000},"page":"2849-2854","source":"Crossref","is-referenced-by-count":14,"title":["Two adults with Rubinstein\u2013Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers"],"prefix":"10.1002","volume":"149A","author":[{"given":"Dagmar","family":"Wieczorek","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oliver","family":"Bartsch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stanislav","family":"Lechno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Kohlhase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorien J.M.","family":"Peters","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hans","family":"Dauwerse","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriele","family":"Gillessen\u2010Kaesbach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.M.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eberhard","family":"Passarge","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2009,11,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<414::AID-AJMG8>3.0.CO;2-T"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.046698"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200378"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.496"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-1331-y"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9502"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32948"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.6.415"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2230.1980.tb01718.x"},{"key":"e_1_2_5_11_1","first-page":"346","article-title":"Rubinstein\u2010Taybi syndrome with multiple flamboyant keloids","volume":"57","author":"Hendrix JD","year":"1996","journal-title":"Cutis"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201594"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370607"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370604"},{"key":"e_1_2_5_15_1","first-page":"645","article-title":"Psychological and speech studies in Rubinstein\u2010Taybi syndrome","volume":"96","author":"Hennekam RCM","year":"1992","journal-title":"Am J Ment Retard"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560125"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/376348a0"},{"key":"e_1_2_5_18_1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1093\/oso\/9780195306910.003.0102","volume-title":"Inborn errors of development. The molecular basis of clinical disorders of morphogenesis","author":"Petrij F","year":"2008"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2006.11.003"},{"key":"e_1_2_5_20_1","doi-asserted-by":"publisher","DOI":"10.1086\/429130"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32424"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/mpo.2950170526"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370609"},{"key":"e_1_2_5_24_1","article-title":"Duplications of the critical Rubinstein\u2010Taybi deletion region on chromosome 16p13.3 cause a novel recognizalbe syndrome","author":"Thienpont B","year":"2009","journal-title":"Eur J Med Genet"},{"key":"e_1_2_5_25_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.84.10.1177"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1086\/427762"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201791"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.33129","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.33129","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,17]],"date-time":"2024-03-17T20:34:12Z","timestamp":1710707652000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.33129"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,11,24]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2009,12]]}},"alternative-id":["10.1002\/ajmg.a.33129"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.33129","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,11,24]]}}}