{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,28]],"date-time":"2025-10-28T17:57:17Z","timestamp":1761674237837},"reference-count":32,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2015,10,5]],"date-time":"2015-10-05T00:00:00Z","timestamp":1444003200000},"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":[[2016,1]]},"abstract":"<jats:sec><jats:label \/><jats:p>Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder caused by mutations in the cohesion complex and its regulators. The syndrome is characterized by multiple organ system abnormalities, pre\u2010 and post\u2010natal growth retardation and typical facial features. Thrombocytopenia is a reduction in platelet count to &lt;150\u2009\u00d7\u200910<jats:sup>9<\/jats:sup>\u2009L. It can be caused by congenital or acquired decreased production, increased destruction, or sequestration of platelets. In recent years, several papers reported thrombocytopenia and immune thrombocytopenia in patients affected by CdLS. In 2011, Lambert et al. estimated the risk of idiopathic thrombocytopenia purpura in CdLS patients to be 31\u2013633 times greater than in the general population. We describe the incidence of thrombocytopenia in 127 Italian CdLS patients, identifying patients with transient or persistent thrombocytopenia, but a lower incidence of true idiopathic thrombocytopenic purpura (ITP). \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37390","type":"journal-article","created":{"date-parts":[[2015,10,6]],"date-time":"2015-10-06T04:44:52Z","timestamp":1444106692000},"page":"130-134","source":"Crossref","is-referenced-by-count":5,"title":["Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?"],"prefix":"10.1002","volume":"170","author":[{"given":"Valeria","family":"Cavalleri","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura R.","family":"Bettini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Barboni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Cereda","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Papa Giovanni XXIII Hospital Bergamo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Mariani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Spinelli","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Gervasini","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, San Paolo School of Medicine University of Milano Milano Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Russo","sequence":"additional","affiliation":[{"name":"IRCCS Istituto Auxologico Italiano Milan Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrea","family":"Biondi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Momcilo","family":"Jankovic","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Monza Brianza per il Bambino e la sua Mamma (MBBM) Foundation, San Gerardo Hospital Milano Bicocca University Monza Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,10,5]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200001000-00012"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2007.00977.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11316"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.04.019"},{"key":"e_1_2_5_6_1","first-page":"420","article-title":"Acute childhood idiopathic thrombocytopenic purpura: AIEOP consensus guidelines for diagnosis and treatment. 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