{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T23:49:45Z","timestamp":1777765785687,"version":"3.51.4"},"reference-count":19,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2018]]},"abstract":"<jats:p>Kleefstra syndrome (KS) is a rare genetic condition resulting from either 9q34.3 microdeletions or mutations in the &lt;i&gt;EHMT1&lt;\/i&gt; gene located in the same genomic region. To date, approximately 100 patients have been reported, thereby allowing the core phenotype of KS to be defined as developmental delay\/intellectual disability, generalized hypotonia, neuropsychiatric anomalies, and a distinctive facial appearance. Here, to further expand the knowledge on genotype and phenotype of this condition, we report 2 novel cases: one patient carrying a 46-kb 9q34.3 deletion and showing macrocephaly never described in KS, and a second patient carrying a classic 9q34.3 deletion, presenting with a previously unreported skeletal feature (postaxial polydactyly of the right foot) and an unusual brain anomaly (olfactory bulb hypoplasia) observed via magnetic resonance imaging. Further, we provide a review of the current literature regarding KS and compare these 2 patients with those previously described, thereby confirming that the genotype-phenotype correlation in KS remains difficult to determine.<\/jats:p>","DOI":"10.1159\/000494532","type":"journal-article","created":{"date-parts":[[2018,11,16]],"date-time":"2018-11-16T22:04:05Z","timestamp":1542405845000},"page":"127-133","source":"Crossref","is-referenced-by-count":34,"title":["New Insights into Kleefstra Syndrome: Report of Two Novel Cases with Previously Unreported Features and Literature Review"],"prefix":"10.1159","volume":"156","author":[{"given":"Claudia","family":"Ciaccio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giulietta","family":"Scuvera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arianna","family":"Tucci","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Gentilin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marco","family":"Baccarin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Marchisio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sabrina","family":"Avignone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3087-8514","authenticated-orcid":false,"given":"Donatella","family":"Milani","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,11,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/srep35756"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.06.003"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2013.09.025"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.tjog.2015.04.003"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.4.300"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13039-016-0231-2"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000058"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1080\/01443615.2016.1245278"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028464"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1086\/505693"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062950"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30496"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.267"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.30148"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30136"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01607.x"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1159\/000335648"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.028258"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp114"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/494532","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/494532","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:05:31Z","timestamp":1745427931000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000494532"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018]]},"references-count":19,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,1,15]]},"published-print":{"date-parts":[[2019,1,15]]}},"URL":"https:\/\/doi.org\/10.1159\/000494532","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018]]}}}