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Its genetic basis is only partially known, with a detection rate of approximately 65\u201370%; specifically, microdeletions or mutations in the <jats:italic>CREBBP<\/jats:italic> or <jats:italic>EP300<\/jats:italic> genes can be found. Much is known about its clinical features and health\u2010care protocols, but some areas of clinical knowledge are currently unsolved. In particular, few efforts have been made until now to understand the variability in the neuropsychological and neurobehavioral profile and to deepen knowledge of the neuroradiological malformative pattern. Consequently, little is known about the possible genotype\u2010phenotype correlations of these issues. Here, we report clinical and genetic data from a cohort of 23 RSTS Italian patients. The most common features in brain magnetic resonance imaging (MRI) were dysmorphic aspects of the corpus callosum (73.6%) with or without minor dysmorphisms of cerebellar vermis, periventricular posterior white matter hyperintensity, and other less common anomalies. The most interesting feature on the whole spine MRI scans was the tendency for a low\u2010lying conus medullaris without terminal filum thickening. These data will help to improve neuropsychiatric and neuroradiological knowledge and highlight specific genotype\u2010phenotype correlations.<\/jats:p>","DOI":"10.1002\/ajmg.b.32628","type":"journal-article","created":{"date-parts":[[2018,4,11]],"date-time":"2018-04-11T00:49:23Z","timestamp":1523407763000},"page":"406-415","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["Rubinstein\u2013Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach"],"prefix":"10.1002","volume":"177","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0624-4634","authenticated-orcid":false,"given":"Paola F.","family":"Ajmone","sequence":"first","affiliation":[{"name":"Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sabrina","family":"Avignone","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Medical Genetics, Department of Health Sciences Universit\u00e0 degli Studi di Milano Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Giacobbe","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fedrico","family":"Monti","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonella","family":"Costantino","sequence":"additional","affiliation":[{"name":"Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susanna","family":"Esposito","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Universit\u00e0 degli Studi di Perugia Perugia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Triulzi","sequence":"additional","affiliation":[{"name":"Department of Neuroradiology, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[{"name":"Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation Universit\u00e0 degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,4,10]]},"reference":[{"key":"e_1_2_7_2_1","unstructured":"Achenbach T. 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