{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T07:52:11Z","timestamp":1777881131043,"version":"3.51.4"},"reference-count":10,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["SAGE Open Medical Case Reports"],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background\/Objectives:<\/jats:title>\n                    <jats:p>Deletions on the short arm of chromosome 2 at bands p11 and p12 have been detected in association with short stature, mild mental retardation and speech delay.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>We describe a 4 year-old boy with some facial dysmorphic traits, congenital malformations and pre- and post-natal growth failure. He also presented marked expressive language problems. The molecular karyotype revealed a 108 Kb deletion within the seventh intron of the CTNNA2 gene at 2p11.2-p12. We observed that some features (short stature, facial dysmorphisms and speech delay) were present in our patient and in patients carrying much larger overlapping deletions.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The description of this small intragenic rearrangement might help to elucidate the role of the single genes included in the 2p11.2-p12 critical region.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/2050313x17693967","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T05:08:04Z","timestamp":1487308084000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["An intragenic deletion within\n                    <i>CTNNA2<\/i>\n                    intron 7 in a boy with short stature and speech delay: A case report"],"prefix":"10.1177","volume":"5","author":[{"given":"Valeria","family":"Paganelli","sequence":"first","affiliation":[{"name":"University of Pavia\u2014Fondazione IRCCS Policlinico San Matteo, Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mara","family":"Giordano","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics, Department of Health Sciences, University of Eastern Piedmont, Novara, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Meazza","sequence":"additional","affiliation":[{"name":"Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia\u2014Fondazione IRCCS Policlinico San Matteo, Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucia","family":"Schena","sequence":"additional","affiliation":[{"name":"University of Pavia\u2014Fondazione IRCCS Policlinico San Matteo, Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauro","family":"Bozzola","sequence":"additional","affiliation":[{"name":"Internal Medicine and Therapeutics Department, Paediatric and Adolescent Unit, University of Pavia\u2014Fondazione IRCCS Policlinico San Matteo, Pavia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2017,2,15]]},"reference":[{"key":"bibr1-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1038\/nn1212"},{"key":"bibr2-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm009"},{"key":"bibr3-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32637"},{"key":"bibr4-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2011.10.035"},{"key":"bibr5-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.12.005"},{"key":"bibr6-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201267"},{"key":"bibr7-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33064"},{"key":"bibr8-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.124"},{"key":"bibr9-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2013-14-9-213"},{"key":"bibr10-2050313X17693967","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4002053"}],"container-title":["SAGE Open Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17693967","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/2050313X17693967","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/2050313X17693967","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T00:33:32Z","timestamp":1777595612000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/2050313X17693967"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,1,1]]},"references-count":10,"alternative-id":["10.1177\/2050313X17693967"],"URL":"https:\/\/doi.org\/10.1177\/2050313x17693967","relation":{},"ISSN":["2050-313X","2050-313X"],"issn-type":[{"value":"2050-313X","type":"print"},{"value":"2050-313X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,1,1]]},"article-number":"2050313X17693967"}}