{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T07:30:36Z","timestamp":1790753436687,"version":"4.1.0"},"reference-count":92,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2015,1,20]],"date-time":"2015-01-20T00:00:00Z","timestamp":1421712000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Ital J Pediatr"],"published-print":{"date-parts":[[2015,12]]},"DOI":"10.1186\/s13052-015-0110-1","type":"journal-article","created":{"date-parts":[[2015,1,19]],"date-time":"2015-01-19T18:43:47Z","timestamp":1421693027000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":114,"title":["Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management"],"prefix":"10.1186","volume":"41","author":[{"given":"Donatella","family":"Milani","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca Maria Paola","family":"Manzoni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lidia","family":"Pezzani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Ajmone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Menni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Esposito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,1,20]]},"reference":[{"key":"110_CR1","doi-asserted-by":"publisher","first-page":"588","DOI":"10.1001\/archpedi.1963.02080040590010","volume":"105","author":"JH Rubinstein","year":"1963","unstructured":"Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588\u2013608.","journal-title":"Am J Dis Child"},{"key":"110_CR2","doi-asserted-by":"publisher","first-page":"636","DOI":"10.1002\/ajmg.1320380430","volume":"38","author":"K Imaizumi","year":"1991","unstructured":"Imaizumi K, Kuroki Y. Rubinstein-Taybi syndrome with de novo reciprocal translocation t(2;16)(p13.3;p13.3). Am J Med Genet A. 1991;38:636\u20139.","journal-title":"Am J Med Genet A"},{"key":"110_CR3","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1002\/ajmg.1320440134","volume":"44","author":"D Lacombe","year":"1992","unstructured":"Lacombe D, Saura R, Taine L, Battin J. Confirmation of assignment of a locus for Rubinstein- Taybi syndrome gene to 16p13.3. Am J Med Genet A. 1992;44:126\u20138.","journal-title":"Am J Med Genet A"},{"key":"110_CR4","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1002\/ajmg.1320440223","volume":"44","author":"N Tommerup","year":"1992","unstructured":"Tommerup N, van der Hagen CB, Heiberg A. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3). Am J Med Genet A. 1992;44:237\u201341.","journal-title":"Am J Med Genet A"},{"key":"110_CR5","first-page":"249","volume":"52","author":"MH Breuning","year":"1993","unstructured":"Breuning MH, Dauwerse HG, Fugazza G, Saris JJ, Spruit L, Wijnen H, et al. Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3. Am J Hum Genet. 1993;52:249\u201354.","journal-title":"Am J Hum Genet"},{"key":"110_CR6","first-page":"255","volume":"52","author":"RC Hennekam","year":"1993","unstructured":"Hennekam RC, Tilanus M, Hamel BC, Voshart-van Heeren H, Mariman EC, van Beersum SE, et al. Deletion at chromosome 16p13.3 as a cause of Rubinstein-Taybi syndrome: clinical aspects. Am J Hum Genet. 1993;52:255\u201362.","journal-title":"Am J Hum Genet"},{"key":"110_CR7","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1038\/376348a0","volume":"376","author":"F Petrij","year":"1995","unstructured":"Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ. Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature. 1995;376:348\u201351.","journal-title":"Nature"},{"key":"110_CR8","doi-asserted-by":"publisher","first-page":"415","DOI":"10.1136\/jmg.39.6.415","volume":"39","author":"I Coupry","year":"2002","unstructured":"Coupry I, Roudaut C, Stef M, Delrue MA, Marche M, Burgelin I, et al. Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome. J Med Genet. 2002;39:415\u201321.","journal-title":"J Med Genet"},{"key":"110_CR9","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1186\/1471-2350-7-77","volume":"7","author":"A Bentivegna","year":"2006","unstructured":"Bentivegna A, Milani D, Gervasini C, Castronovo P, Mottadelli F, Manzini S, et al. Rubinstein-Taybi syndrome: spectrum of CREBBP mutations in Italian patients. BMC Med Genet. 2006;7:77.","journal-title":"BMC Med Genet"},{"key":"110_CR10","doi-asserted-by":"crossref","first-page":"1553","DOI":"10.1101\/gad.14.13.1553","volume":"14","author":"RH Goodman","year":"2000","unstructured":"Goodman RH, Smolik S. CBP\/p300 in cell growth, transformation, and development. Genes Dev. 2000;14:1553\u201377.","journal-title":"Genes Dev"},{"key":"110_CR11","doi-asserted-by":"publisher","first-page":"572","DOI":"10.1086\/429130","volume":"76","author":"JH Roelfsema","year":"2005","unstructured":"Roelfsema JH, White SJ, Ariy\u00fcrek Y, Bartholdi D, Niedrist D, Papadia F, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet. 2005;76:572\u201380.","journal-title":"Am J Hum Genet"},{"key":"110_CR12","doi-asserted-by":"publisher","first-page":"327","DOI":"10.1136\/jmg.2006.046698","volume":"44","author":"D Bartholdi","year":"2007","unstructured":"Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300. J Med Genet. 2007;44:327\u201333.","journal-title":"J Med Genet"},{"key":"110_CR13","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1002\/ajmg.a.33153","volume":"152A","author":"O Bartsch","year":"2010","unstructured":"Bartsch O, Labont\u00e9 J, Albrecht B, Wieczorek D, Lechno S, Zechner U, et al. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein\u2013Taybi syndrome. Am J Med Genet A. 2010;152A:181\u20134.","journal-title":"Am J Med Genet A"},{"issue":"1","key":"110_CR14","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1038\/ejhg.2010.121","volume":"19","author":"AC Tsai","year":"2011","unstructured":"Tsai AC, Dossett CJ, Walton CS, Cramer AE, Eng PA, Nowakowska BA, et al. Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH. Eur J Hum Genet. 2011;19(1):43\u20139.","journal-title":"Eur J Hum Genet"},{"key":"110_CR15","doi-asserted-by":"publisher","first-page":"251","DOI":"10.1002\/ajmg.a.36237","volume":"164A","author":"SA Woods","year":"2014","unstructured":"Woods SA, Robinson HB, Kohler LJ, Agamanolis D, Sterbenz G, Khalifa M. Exome sequencing identifies a novel EP300 frame shift mutation in a patient with features that overlap Cornelia de Lange syndrome. Am J Med Genet A. 2014;164A:251\u20138.","journal-title":"Am J Med Genet A"},{"key":"110_CR16","doi-asserted-by":"crossref","unstructured":"Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, et al. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2014. doi:10.1111\/cge.12348.","DOI":"10.1111\/cge.12348"},{"key":"110_CR17","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1016\/j.gene.2012.12.105","volume":"518","author":"M Tajir","year":"2013","unstructured":"Tajir M, Fergelot P, Lancelot G, Elalaoui SC, Arveiler B, Lacombe D, et al. Germline mosaicism in Rubinstein\u2013Taybi syndrome. Gene. 2013;518:476\u20138.","journal-title":"Gene"},{"issue":"9","key":"110_CR18","doi-asserted-by":"publisher","first-page":"2300","DOI":"10.1002\/ajmg.a.36654","volume":"164","author":"L Beets","year":"2014","unstructured":"Beets L, Rodr\u0131guez-Fonseca C, Hennekam RC. Growth charts for individuals with Rubinstein\u2013Taybi syndrome. Am J Med Genet A. 2014;164(9):2300\u20139.","journal-title":"Am J Med Genet A"},{"issue":"2","key":"110_CR19","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/j.1399-0004.1993.tb03851.x","volume":"44","author":"E Bonioli","year":"1993","unstructured":"Bonioli E, Bellini C, S\u00e9n\u00e8s FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein-Taybi syndrome. Clin Genet. 1993;44(2):79\u201381.","journal-title":"Clin Genet"},{"key":"110_CR20","doi-asserted-by":"publisher","first-page":"55","DOI":"10.1097\/MCD.0b013e32833f000b","volume":"20","author":"H Shah","year":"2011","unstructured":"Shah H, Singh G, Vijayan S, Girisha KM. Second report of slipped capital femoral epiphysis in Rubinstein-Taybi syndrome. Clinical Dysmorphology. 2011;20:55\u20137.","journal-title":"Clinical Dysmorphology"},{"key":"110_CR21","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1302\/0301-620X.62B3.7410460","volume":"62","author":"MJ Robson","year":"1980","unstructured":"Robson MJ, Brown LM, Sharrard WJ. Cervical spondylolisthesis and other skeletal abnormalities in Rubinstein-Taybi syndrome. J Bone Joint Surg Br. 1980;62:297\u20139.","journal-title":"J Bone Joint Surg Br."},{"key":"110_CR22","doi-asserted-by":"publisher","first-page":"130","DOI":"10.1002\/ajmg.a.30708","volume":"135","author":"T Yamamoto","year":"2005","unstructured":"Yamamoto T, Kurosawa K, Masuno M, Okuzumi S, Kondo S, Miyama S, et al. Congenital anomaly of cervical vertebrae is a major complication of Rubinstein-Taybi syndrome. Am J Med Genet A. 2005;135:130\u20133.","journal-title":"Am J Med Genet A"},{"key":"110_CR23","doi-asserted-by":"publisher","first-page":"2129","DOI":"10.1002\/ajmg.a.36585","volume":"164A","author":"P Marzuillo","year":"2014","unstructured":"Marzuillo P, Grandone A, Luongo C, Cantelmi G, Polito C, del Giudice EM, et al. Brain magnetic resonance in the routine management of Rubinstein-Taybi syndrome (RTS) can prevent lifethreatening events and neurological deficits. Am J Med Genet A. 2014;164A:2129\u201332.","journal-title":"Am J Med Genet A"},{"key":"110_CR24","first-page":"3","volume":"6","author":"JH Rubinstein","year":"1990","unstructured":"Rubinstein JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957\u20131988. Am J Med Genet Suppl. 1990;6:3\u201316.","journal-title":"Am J Med Genet Suppl"},{"key":"110_CR25","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1002\/ajmg.a.33303","volume":"152A","author":"C Wojcik","year":"2010","unstructured":"Wojcik C, Volz K, Ranola M, Kitch K, Karim T, O\u2019Neil J, et al. Rubinstein\u2013Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? Am J Med Genet A. 2010;152A:479\u201383.","journal-title":"Am J Med Genet A"},{"key":"110_CR26","doi-asserted-by":"publisher","first-page":"2766","DOI":"10.1002\/ajmg.a.34227","volume":"155","author":"L Parsley","year":"2011","unstructured":"Parsley L, Bellus G, Handler M, Tsai AC-H. Identical twin sisters with Rubinstein\u2013Taybi syndrome associated with Chiari malformations and syrinx. Am J Med Genet A. 2011;155:2766\u2013770.","journal-title":"Am J Med Genet A"},{"key":"110_CR27","doi-asserted-by":"publisher","first-page":"2163","DOI":"10.1007\/s00381-012-1893-7","volume":"28","author":"C Giussani","year":"2012","unstructured":"Giussani C, Selicorni A, Fossati C, Ingelmo P, Canonico F, Landi A, et al. The association of neural axis and craniovertebral junction anomalies with scoliosis in Rubinstein\u2013Taybi syndrome. Child Nerv Syst. 2012;28:2163\u20138.","journal-title":"Child Nerv Syst"},{"key":"110_CR28","doi-asserted-by":"publisher","first-page":"28","DOI":"10.1186\/1471-2350-14-28","volume":"14","author":"A Marzuillo Grandone","year":"2013","unstructured":"Marzuillo Grandone A, Coppola R, Cozzolino D, Festa A, Messa F, Luongo C, et al. Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia. BMC Medical Genetics. 2013;14:28.","journal-title":"BMC Medical Genetics"},{"issue":"6","key":"110_CR29","doi-asserted-by":"publisher","first-page":"495","DOI":"10.1136\/adc.49.6.495-f","volume":"49","author":"AJ Barson","year":"1974","unstructured":"Barson AJ. Proceedings: Rubinstein-Taybi syndrome. Arch Dis Child. 1974;49(6):495.","journal-title":"Arch Dis Child"},{"issue":"3","key":"110_CR30","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1097\/00019605-200207000-00017","volume":"11","author":"R Agarwal","year":"2002","unstructured":"Agarwal R, Aggarwal R, Kabra M, Deorari AK. Dandy-Walker malformation in Rubinstein-Taybi syndrome: a rare association. Clin Dysmorphol. 2002;11(3):223\u20134.","journal-title":"Clin Dysmorphol"},{"issue":"4 Suppl","key":"110_CR31","first-page":"261","volume":"105","author":"T Tanaka","year":"2006","unstructured":"Tanaka T, Ling BC, Rubinstein JH, Crone KR. Rubinstein-Taybi syndrome in children with tethered spinal cord. J Neurosurg. 2006;105(4 Suppl):261\u20134.","journal-title":"J Neurosurg"},{"key":"110_CR32","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1007\/s00062-011-0100-7","volume":"23","author":"S Fischer","year":"2013","unstructured":"Fischer S, B\u00e4zner H, Henkes H. Cervical artery dissection in a young patient with Rubinstein-Taybi syndrome. Clin Neuroradiol. 2013;23:41\u20134.","journal-title":"Clin Neuroradiol"},{"key":"110_CR33","first-page":"1083","volume":"62","author":"S Ishizaka","year":"2010","unstructured":"Ishizaka S, Sou G, Morofuji Y, Hayashi K, Kitagawa N, Tateishi Y, et al. Dissecting aneurysm of the anterior cerebral artery with Rubinstein-Taybi syndrome--a case report. Brain Nerve. 2010;62:1083\u20138.","journal-title":"Brain Nerve"},{"key":"110_CR34","doi-asserted-by":"publisher","first-page":"501","DOI":"10.1097\/MAO.0b013e31803115d4","volume":"28","author":"A Pe\u00f1aranda","year":"2007","unstructured":"Pe\u00f1aranda A, Cer\u00f3n M. Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report. Otol Neurotol. 2007;28:501\u20133.","journal-title":"Otol Neurotol"},{"key":"110_CR35","doi-asserted-by":"publisher","first-page":"281","DOI":"10.2500\/aap.2006.27.2864","volume":"27","author":"DR Naimi","year":"2006","unstructured":"Naimi DR, Munoz J, Rubinstein J, Hostoffer Jr RW. Rubinstein-Taybi syndrome: an immune deficiency as a cause for recurrent infections. Allergy Asthma Proc. 2006;27:281\u20134.","journal-title":"Allergy Asthma Proc"},{"key":"110_CR36","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1590\/S0100-879X2010007500119","volume":"43","author":"LC Torres","year":"2010","unstructured":"Torres LC, Sugayama SM, Arslanian C, Sales MM, Carneiro-Sampaio M. Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome. Braz J Med Biol Res. 2010;43:1215\u201324.","journal-title":"Braz J Med Biol Res"},{"key":"110_CR37","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1002\/ajmg.a.10009","volume":"119A","author":"S Wiley","year":"2003","unstructured":"Wiley S, Swayne S, Rubinstein JH, Lanphear NE, Stevens CA. Rubinstein-Taybi syndrome medical guidelines. Am J Med Genet A. 2003;119A:101\u201310.","journal-title":"Am J Med Genet A"},{"key":"110_CR38","doi-asserted-by":"publisher","first-page":"2512","DOI":"10.1002\/ajmg.a.32424","volume":"146A","author":"EK Schorry","year":"2008","unstructured":"Schorry EK, Keddache M, Lanphear N, Rubinstein JH, Srodulski S, Fletcher D, et al. Genotype-phenotype correlations in Rubinstein-Taybi syndrome. Am J Med Genet A. 2008;146A:2512\u20139.","journal-title":"Am J Med Genet A"},{"key":"110_CR39","doi-asserted-by":"publisher","first-page":"272","DOI":"10.1159\/000063837","volume":"216","author":"A Marabotti","year":"2002","unstructured":"Marabotti A, Giannecchini G, Cariello A, Cappelli C, Giannecchini I, Bedei A. Stenosis of the lachrymal system in Rubinstein-Taybi syndrome. Ophthalmol. 2002;216:272\u20136.","journal-title":"Ophthalmol"},{"key":"110_CR40","doi-asserted-by":"publisher","first-page":"1177","DOI":"10.1136\/bjo.84.10.1177","volume":"84","author":"MM Van Genderen","year":"2000","unstructured":"Van Genderen MM, Kinds GF, Riemslag FCC, Hennekam RCM. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000;84:1177\u201384.","journal-title":"Br J Ophthalmol"},{"key":"110_CR41","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1002\/ajmg.a.33967","volume":"155","author":"R Kosaki","year":"2011","unstructured":"Kosaki R, Fujita H, Takada H, Okada M, Torii C, Kosaki K. Monozygotic twins of Rubinstein\u2013Taybi syndrome discordant for glaucoma. Am J Med Genet A. 2011;155:1189\u201391.","journal-title":"Am J Med Genet A"},{"key":"110_CR42","doi-asserted-by":"publisher","first-page":"1369","DOI":"10.2147\/OPTH.S31023","volume":"6","author":"DJ Jacobs","year":"2012","unstructured":"Jacobs DJ, Sein J, Berrocal AM, Grajewski AL, Hodapp E. Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome. Clin Ophthalmol. 2012;6:1369\u201371.","journal-title":"Clin Ophthalmol"},{"key":"110_CR43","first-page":"56","volume":"6","author":"RC Hennekam","year":"1990","unstructured":"Hennekam RC, Stevens CA, Van de Kamp JJ. Etiology and recurrence risk in Rubinstein- Taybi syndrome. Am J Med Genet. 1990;6:56\u201364.","journal-title":"Am J Med Genet"},{"key":"110_CR44","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1002\/ajmg.a.31622","volume":"143","author":"A Bloch-Zupan","year":"2007","unstructured":"Bloch-Zupan A, Stachtou J, Emmanouil D, Arveiler B, Griffiths D, Lacombe D. Oro- dental features as useful diagnostic tool in Rubinstein-Taybi syndrome. Am J Med Genet A. 2007;143:570\u20133.","journal-title":"Am J Med Genet A"},{"key":"110_CR45","doi-asserted-by":"publisher","first-page":"346","DOI":"10.1002\/ajmg.1320590313","volume":"59","author":"CA Stevens","year":"1995","unstructured":"Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet A. 1995;59:346\u20138.","journal-title":"Am J Med Genet A"},{"key":"110_CR46","doi-asserted-by":"publisher","first-page":"109","DOI":"10.1002\/ajmg.10617","volume":"112","author":"D Hanauer","year":"2002","unstructured":"Hanauer D, Argilla M, Wallerstein R. Rubinstein-Taybi syndrome and hypoplastic left heart. Am J Med Genet A. 2002;112:109\u201311.","journal-title":"Am J Med Genet A"},{"key":"110_CR47","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1002\/9780470893159.ch47","volume-title":"Management of genetic syndromes","author":"RCM Hennekam","year":"2010","unstructured":"Hennekam RCM. Rubinstein-Taybi syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic syndromes. 3rd ed. Hoboken, NJ: Wiley-Blackwell; 2010. p. 705\u201315.","edition":"3"},{"key":"110_CR48","first-page":"3264","volume":"82","author":"DP Olson","year":"1997","unstructured":"Olson DP, Koenig RJ. Thyroid function in Rubinstein-Taybi syndrome. J Clin Endocrinol Metab. 1997;82:3264\u20136.","journal-title":"J Clin Endocrinol Metab"},{"key":"110_CR49","first-page":"457","volume":"16","author":"S Kurtoglu","year":"2003","unstructured":"Kurtoglu S, Akcakus M, Gunes T, Cetin N, Topaloglu N. Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. J Pediatr Endocrinol Metab. 2003;16:457\u20139.","journal-title":"J Pediatr Endocrinol Metab"},{"key":"110_CR50","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1002\/ajmg.a.33480","volume":"152A","author":"B Isidor","year":"2010","unstructured":"Isidor B, Podevin G, Camby C, Mosnier J-F, Chauty A, Lyet J-M, et al. Rubinstein\u2013Taybi syndrome and Hirschsprung disease in a patient harbouring an intragenic deletion of the CREBBP gene. Am J Med Genet A. 2010;152A:1847\u20138.","journal-title":"Am J Med Genet A"},{"key":"110_CR51","doi-asserted-by":"publisher","first-page":"127","DOI":"10.1159\/000196186","volume":"60","author":"M Zucconi","year":"1993","unstructured":"Zucconi M, Ferini-Strambi L, Erminio C, Pestalozza G, Smirne S. Obstructive sleep apnea in the Rubinstein-Taybi syndrome. Respiration. 1993;60:127\u201332.","journal-title":"Respiration"},{"key":"110_CR52","doi-asserted-by":"publisher","first-page":"212","DOI":"10.3345\/kjp.2012.55.6.212","volume":"55","author":"HS Choi","year":"2012","unstructured":"Choi HS. Pulmonary hypertension due to obstructive sleep apnea in a child with Rubinstein-Taybi syndrome. Korean J Pediatr. 2012;55:212\u201314.","journal-title":"Korean J Pediatr"},{"key":"110_CR53","doi-asserted-by":"publisher","first-page":"607","DOI":"10.1111\/j.1468-3083.2004.00991.x","volume":"18","author":"P Bayle","year":"2004","unstructured":"Bayle P, Bazex J, Lamant L, Lauque D, Durieu C, Albes B. Multiple perforating and non perforating pilomatricomas in a patient with Churg-Strauss syndrome and Rubinstein-Taybi syndrome. J Eur Acad Dermatol Venereol. 2004;18:607\u201310.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"110_CR54","doi-asserted-by":"crossref","unstructured":"van de Kar AL, Houge G, Shaw AC, De Jong D, van Belzen MJ, Peters DJ, Hennekam RC. Keloids in Rubinstein-Taybi Syndrome: a clinical study. Br J Dermatol. 2014 doi:10.1111\/bjd.13124.","DOI":"10.1111\/bjd.13124"},{"key":"110_CR55","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1002\/mpo.2950170526","volume":"17","author":"PA Siraganian","year":"1989","unstructured":"Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989;17:485\u201391.","journal-title":"Med Pediatr Oncol"},{"key":"110_CR56","doi-asserted-by":"publisher","first-page":"1332","DOI":"10.1002\/ajmg.a.36399","volume":"164A","author":"E de Kort","year":"2014","unstructured":"de Kort E, Conneman N, Diderich K. A case of Rubinstein-Taybi syndrome and congenital neuroblastoma. Am J Med Genet A. 2014;164A:1332\u20133.","journal-title":"Am J Med Genet A"},{"key":"110_CR57","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1002\/ajmg.1320560125","volume":"56","author":"RW Miller","year":"1995","unstructured":"Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995;56:112\u20135.","journal-title":"Am J Med Genet"},{"key":"110_CR58","doi-asserted-by":"publisher","first-page":"365","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<365::AID-AJMG4>3.0.CO;2-P","volume":"83","author":"K Ihara","year":"1999","unstructured":"Ihara K, Kuromaru R, Takemoto M, Hara T. Rubinstein-Taybi syndrome: a girl with a history of neuroblastoma and premature thelarche. Am J Med Genet A. 1999;83:365\u20136.","journal-title":"Am J Med Genet A"},{"key":"110_CR59","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1017\/S1462399407000415","volume":"9","author":"JH Roelfsema","year":"2007","unstructured":"Roelfsema JH, Peters DJ. Rubinstein\u2013Taybi syndrome: clinical and molecular overview. Expert Rev Mol Med. 2007;9:1\u201316.","journal-title":"Expert Rev Mol Med"},{"key":"110_CR60","doi-asserted-by":"publisher","first-page":"383","DOI":"10.1002\/pbc.24765","volume":"61","author":"F Bourdeaut","year":"2014","unstructured":"Bourdeaut F, Miquel C, Richer W, Grill J, Zerah M, Grison C, et al. Rubinstein-Taybi syndrome predisposing to non-WNT, non-SHH, group 3 medulloblastoma. Pediatr Blood Cancer. 2014;61:383\u20136.","journal-title":"Pediatr Blood Cancer"},{"key":"110_CR61","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1002\/mpo.2950210608","volume":"21","author":"G Evans","year":"1993","unstructured":"Evans G, Burnell L, Campbell R, Gattamaneni HR, Birch J. Congenital anomalies and genetic syndromes in 173 cases of medulloblastoma. Med Pediatr Oncol. 1993;21:433\u20134.","journal-title":"Med Pediatr Oncol"},{"key":"110_CR62","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1002\/(SICI)1096-8628(19961218)66:3<367::AID-AJMG27>3.0.CO;2-J","volume":"66","author":"GJ Skousen","year":"1996","unstructured":"Skousen GJ, Wardinsky T, Chenaille P. Medulloblastoma in patient with Rubinstein\u2013Taybi syndrome. Am J Med Genet A. 1996;66:367.","journal-title":"Am J Med Genet A"},{"key":"110_CR63","doi-asserted-by":"publisher","first-page":"235","DOI":"10.1159\/000050428","volume":"35","author":"MD Taylor","year":"2001","unstructured":"Taylor MD, Mainprize TG, Rutka JT, Becker L, Bayani J, Drake JM. Medulloblastoma in a child with Rubenstein\u2013Taybi syndrome: Case report and review of the literature. Pediatr Neurosurg. 2001;35:235\u20138.","journal-title":"Pediatr Neurosurg"},{"key":"110_CR64","first-page":"645","volume":"96","author":"RC Hennekam","year":"1992","unstructured":"Hennekam RC, Baselier AC, Beyaert E, Bos A, Blok JB, Jansma HB, et al. Psychological and speech studies in Rubinstein-Taybi syndrome. Am J Ment Retard. 1992;96:645\u201360.","journal-title":"Am J Ment Retard"},{"key":"110_CR65","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1111\/j.1741-4520.2012.00356.x","volume":"52","author":"T Yagihashi","year":"2012","unstructured":"Yagihashi T, Kosaki K, Okamoto N, Mizuno S, Kurosawa K, Takahashi T, et al. Age-dependent change in behavioral feature in Rubinstein-Taybi syndrome. Congenit Anom. 2012;52:82\u20136.","journal-title":"Congenit Anom"},{"key":"110_CR66","doi-asserted-by":"publisher","first-page":"1252","DOI":"10.1007\/s10803-009-0733-4","volume":"39","author":"C Gal\u00e9ra","year":"2009","unstructured":"Gal\u00e9ra C, Taupiac E, Fraisse S, Naudion S, Toussaint E, Rooryck-Thambo C, et al. Socio-behavioral characteristics of children with Rubinstein-Taybi syndrome. J Autism Dev Disord. 2009;39:1252\u201360.","journal-title":"J Autism Dev Disord"},{"key":"110_CR67","doi-asserted-by":"publisher","first-page":"496","DOI":"10.1136\/jmg.39.7.496","volume":"39","author":"O Bartsch","year":"2002","unstructured":"Bartsch O, Locher K, Meinecke P, Kress W, Seemanov\u00e1 E, Wagner A, et al. Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP. J Med Genet. 2002;39:496\u2013501.","journal-title":"J Med Genet"},{"key":"110_CR68","doi-asserted-by":"publisher","first-page":"2849","DOI":"10.1002\/ajmg.a.33129","volume":"149A","author":"D Wieczorek","year":"2009","unstructured":"Wieczorek D, Bartsch O, Lechno S, Kohlhase J, Peters DJ, Dauwerse H, et al. Two adults with Rubinstein\u2013Taybi syndrome with mild mental retardation, glaucoma, normal growth and skull circumference, and camptodactyly of third fingers. Am J Med Genet A. 2009;149A:2849\u2013854.","journal-title":"Am J Med Genet A"},{"key":"110_CR69","doi-asserted-by":"publisher","first-page":"1680","DOI":"10.1002\/ajmg.a.34058","volume":"155","author":"CA Stevens","year":"2011","unstructured":"Stevens CA, Pouncey J, Knowles D. Adults with Rubinstein\u2013Taybi syndrome. Am J Med Genet A. 2011;155:1680\u20134.","journal-title":"Am J Med Genet A"},{"key":"110_CR70","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/1054-139X(95)00073-2","volume":"17","author":"RW Blum","year":"1995","unstructured":"Blum RW. Transition to adult health care: Setting the stage. J Adolesc Health. 1995;17:3\u20135.","journal-title":"J Adolesc Health"},{"key":"110_CR71","first-page":"321","volume":"145","author":"CTRM Schrander-Stumpel","year":"2007","unstructured":"Schrander-Stumpel CTRM, Williams MS. Adult dysmorphology. Seminars in medical genetics. Am J Med Genet C. 2007;145:321.","journal-title":"Am J Med Genet C"},{"key":"110_CR72","doi-asserted-by":"publisher","first-page":"333","DOI":"10.1111\/j.1468-3083.2008.02852.x","volume":"23","author":"K Nakai","year":"2009","unstructured":"Nakai K, Yoneda K, Moriue T, Kubota Y. Striate palmoplantar keratoderma in a patient with Rubinstein\u2013Taybi syndrome. J Eur Acad Dermatol Venereol. 2009;23:333\u20135.","journal-title":"J Eur Acad Dermatol Venereol"},{"key":"110_CR73","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1046\/j.1365-2788.1998.00136.x","volume":"42","author":"AS Levitas","year":"1998","unstructured":"Levitas AS, Reid CS. Rubinstein-Taybi syndrome and psychiatric disorders. J Intellect Disabil Res. 1998;42:284\u201392.","journal-title":"J Intellect Disabil Res"},{"key":"110_CR74","doi-asserted-by":"publisher","first-page":"2939","DOI":"10.1002\/ajmg.a.33693","volume":"152A","author":"C Li","year":"2010","unstructured":"Li C, Szybowska M. A novel mutation c.4003\u00a0G\u2009>\u2009C in the CREBBP gene in an adult female with Rubinstein\u2013Taybi syndrome presenting with subtle dysmorphic features. Am J Med Genet A. 2010;152A:2939\u201341.","journal-title":"Am J Med Genet A"},{"key":"110_CR75","doi-asserted-by":"publisher","first-page":"168","DOI":"10.1136\/jmg.37.3.168","volume":"37","author":"F Petrij","year":"2000","unstructured":"Petrij F, Dauwerse HG, Blough RI, Giles RH, van der Smagt JJ, Wallerstein R, et al. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. 2000;37:168\u201376.","journal-title":"J Med Genet"},{"key":"110_CR76","doi-asserted-by":"publisher","first-page":"843","DOI":"10.1038\/sj.ejhg.5201847","volume":"15","author":"M Stef","year":"2007","unstructured":"Stef M, Simon D, Mardirossian B, Delrue MA, Burgelin I, Hubert C, et al. Spectrum of CREBBP gene dosage anomalies in Rubinstein-Taybi syndrome patients. Eur J Hum Genet. 2007;15:843\u20137.","journal-title":"Eur J Hum Genet"},{"key":"110_CR77","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1007\/s00439-005-1331-y","volume":"117","author":"O Bartsch","year":"2005","unstructured":"Bartsch O, Schmidt S, Richter M, Morlot S, Seemanov\u00e1 E, Wiebe G, et al. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005;117:485\u201393.","journal-title":"Hum Genet"},{"key":"110_CR78","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1007\/s00439-006-0215-0","volume":"120","author":"O Bartsch","year":"2006","unstructured":"Bartsch O, Rasi S, Delicado A, Dyack S, Neumann LM, Seemanov\u00e1 E, et al. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndrome. Hum Genet. 2006;120:179\u201386.","journal-title":"Hum Genet"},{"key":"110_CR79","doi-asserted-by":"publisher","first-page":"182","DOI":"10.1016\/j.gene.2012.02.043","volume":"499","author":"AHM Lai","year":"2012","unstructured":"Lai AHM, Brett MS, Chin WH, Lim ECP, Ng JSH, Tan EC. A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein\u2013Taybi syndrome. Gene. 2012;499:182\u20135.","journal-title":"Gene"},{"issue":"3","key":"110_CR80","first-page":"2809","volume":"12","author":"F Cal\u00ec","year":"2013","unstructured":"Cal\u00ec F, Failla P, Chiavetta V, Ragalmuto A, Ruggeri G, Schinocca P, et al. Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome. Genetics and Molecular Research. 2013;12(3):2809\u201315.","journal-title":"Genetics and Molecular Research"},{"key":"110_CR81","doi-asserted-by":"publisher","first-page":"567","DOI":"10.1016\/j.ygeno.2007.07.012","volume":"90","author":"C Gervasini","year":"2007","unstructured":"Gervasini C, Castronovo P, Bentivegna A, Mottadelli F, Faravelli F, Giovannucci-Uzielli ML, et al. High frequency of mosaic CREBBP deletions in Rubinstein-Taybi syndrome patients and mapping of somatic and germ-line breakpoints. Genomics. 2007;90:567\u201373.","journal-title":"Genomics"},{"key":"110_CR82","doi-asserted-by":"publisher","first-page":"1463","DOI":"10.1002\/ajmg.a.32948","volume":"149A","author":"PW Chiang","year":"2009","unstructured":"Chiang PW, Lee NC, Chien N, Hwu WL, Spector E, Tsai AC. Somatic and germ-line mosaicism in Rubinstein-Taybi syndrome. Am J Med Genet A. 2009;149A:1463\u201367.","journal-title":"Am J Med Genet A"},{"key":"110_CR83","doi-asserted-by":"publisher","first-page":"997","DOI":"10.1002\/ajmg.a.32771","volume":"149A","author":"P Foley","year":"2009","unstructured":"Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA. Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. Am J Med Genet A. 2009;149A:997\u20131000.","journal-title":"Am J Med Genet A"},{"issue":"227","key":"110_CR84","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1136\/adc.43.227.94","volume":"43","author":"CJ Padfield","year":"1968","unstructured":"Padfield CJ, Partington MW, Simpson NE. The Rubinstein-Taybi syndrome. Arch Dis Child. 1968;43(227):94\u2013101.","journal-title":"Arch Dis Child"},{"key":"110_CR85","first-page":"672","volume":"7","author":"IC Verma","year":"1970","unstructured":"Verma IC. Rubinstein Taybi syndrome. Case report. Indian Pediatr. 1970;7:672\u20134.","journal-title":"Indian Pediatr"},{"key":"110_CR86","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1002\/ajmg.1320260115","volume":"26","author":"P Cotsirilos","year":"1987","unstructured":"Cotsirilos P, Taylor JC, Matalon R. Dominant inheritance of a syndrome similar to Rubinstein-Taybi. Am J Med Genet A. 1987;26:85\u201393.","journal-title":"Am J Med Genet A"},{"key":"110_CR87","doi-asserted-by":"publisher","first-page":"439","DOI":"10.1007\/BF00595907","volume":"14","author":"RC Hennekam","year":"1989","unstructured":"Hennekam RC, Lommen EJ, Strengers JL, Van Spijker HG, Jansen-Kokx TM. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. 1989;14:439\u201341.","journal-title":"Eur J Pediatr"},{"key":"110_CR88","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1002\/ajmg.1320460309","volume":"46","author":"RW Marion","year":"1993","unstructured":"Marion RW, Garcia DM, Karasik JB. Apparent dominant transmission of the Rubinstein-Taybi syndrome. Am J Med Genet A. 1993;46:284\u20137.","journal-title":"Am J Med Genet A"},{"key":"110_CR89","doi-asserted-by":"publisher","first-page":"2254","DOI":"10.1002\/ajmg.a.33598","volume":"152A","author":"O Bartsch","year":"2010","unstructured":"Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. Inheritance and variable expression in Rubinstein\u2013Taybi syndrome. Am J Med Genet A. 2010;152A:2254\u201361.","journal-title":"Am J Med Genet A"},{"key":"110_CR90","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1172\/JCI59466","volume":"122","author":"JH Shim","year":"2012","unstructured":"Shim JH, Greenblatt MB, Singh A, Brady N, Hu D, Drapp R, et al. Administration of BMP2\/7 in utero partially reverses Rubinstein-Taybi syndrome-like skeletal defects induced by Pdk1 or Cbp mutations in mice. Journal of Clin Invest. 2012;122:91\u2013106.","journal-title":"Journal of Clin Invest"},{"key":"110_CR91","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1007\/s12017-013-8285-3","volume":"16","author":"E Park","year":"2014","unstructured":"Park E, Kim Y, Ryu H, Kowall NW, Lee J, Ryu H. Epigenetic Mechanisms of Rubinstein\u2013Taybi Syndrome. Neuromol Med. 2014;16:16\u201324.","journal-title":"Neuromol Med"},{"key":"110_CR92","unstructured":"Milani D, Pezzani L, Negri G, Gervasini C, Esposito S. The potential impact of fetal genotype on maternal blood pressure during pregnancy: the example of EP300. J Hypertens. in press."}],"container-title":["Italian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-015-0110-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13052-015-0110-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-015-0110-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13052-015-0110-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,27]],"date-time":"2022-04-27T01:14:10Z","timestamp":1651022050000},"score":1,"resource":{"primary":{"URL":"https:\/\/ijponline.biomedcentral.com\/articles\/10.1186\/s13052-015-0110-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1,20]]},"references-count":92,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,12]]}},"alternative-id":["110"],"URL":"https:\/\/doi.org\/10.1186\/s13052-015-0110-1","relation":{},"ISSN":["1824-7288"],"issn-type":[{"value":"1824-7288","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,1,20]]},"assertion":[{"value":"19 October 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2015","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 January 2015","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}],"article-number":"4"}}