{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:23:20Z","timestamp":1762323800118,"version":"3.40.4"},"reference-count":13,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>The chromosome interval 10p15.3p14 harbors about a dozen genes. This region has been implicated in a few well-known human phenotypes, namely HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) and DGS2 (DiGeorge syndrome 2), but a number of variable phenotypes have also been reported. Cleft lip\/palate seems to be a very unusual finding within the clinical spectrum of patients with this deletion. Here, we report a male child born with short stature, cleft lip\/palate, and feeding problems who was found to have a 5.6-Mb deletion at 10p15.3p14.<\/jats:p>","DOI":"10.1159\/000371404","type":"journal-article","created":{"date-parts":[[2015,1,22]],"date-time":"2015-01-22T07:57:19Z","timestamp":1421913439000},"page":"39-43","source":"Crossref","is-referenced-by-count":5,"title":["Cleft Lip\/Palate, Short Stature, and Developmental Delay in a Boy with a 5.6-Mb Interstitial Deletion Involving 10p15.3p14"],"prefix":"10.1159","volume":"6","author":[{"given":"Bruno F.","family":"Gamba","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carla","family":"Rosenberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Richieri-Costa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lucilene A.","family":"Ribeiro-Bicudo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,1,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2105-10-380"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2011.08.002"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35574"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1086\/301718"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8166-2-25"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.2002.tb04245.x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.1.33"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33366"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34133"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390220"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehq447"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/35019088"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.anngen.2004.03.001"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/371404","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/371404","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:12:41Z","timestamp":1745431961000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000371404"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2015,2,1]]},"published-print":{"date-parts":[[2015,2,19]]}},"URL":"https:\/\/doi.org\/10.1159\/000371404","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2015]]}}}