{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T06:12:24Z","timestamp":1791353544469,"version":"4.3.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T00:00:00Z","timestamp":1386201600000},"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":[[2014,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:label\/><jats:p>Interstitial deletions of the long arm of chromosome 1 are rare and they are classified as proximal or intermediate. The intermediate interstitial deletions span 1q24\u20131q32. We describe a 6\u2010year\u2010old girl with multiple pituitary hormone deficiency, severe cognitive impairment, bilateral cleft lip and palate, midline facial capillary malformation, erythema of hands and feet and dysplastic cranial vessels, low anti\u2010thrombin III activity, hemifacial overgrowth due to progressive infiltrating lipomatosis with bone overgrowth, marked vascular proliferation and erythema of hands and feet, and abnormal cranial vessels. The girl's karyotype showed an apparently de novo interstitial deletion 1q24.3q31.1, which was defined by array\u2010CGH. The deleted region contains numerous genes, but only eight (<jats:italic>CENPL<\/jats:italic>, <jats:italic>LHX4<\/jats:italic>, <jats:italic>LAMC1<\/jats:italic>, <jats:italic>LAMC2<\/jats:italic>, <jats:italic>PTGS2<\/jats:italic>, <jats:italic>ANGPTL1<\/jats:italic>, <jats:italic>TNN<\/jats:italic>, and <jats:italic>TNR<\/jats:italic>) are good candidates to explain, at least partially, the phenotype of the proposita. We, therefore, discuss the involvement of these genes and the observed phenotype. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36283","type":"journal-article","created":{"date-parts":[[2013,12,5]],"date-time":"2013-12-05T20:37:20Z","timestamp":1386275840000},"page":"495-499","source":"Crossref","is-referenced-by-count":16,"title":["Pituitary deficiency and congenital infiltrating lipomatosis of the face in a girl with deletion of chromosome 1q24.3q31.1"],"prefix":"10.1002","volume":"164","author":[{"given":"V.","family":"Capra","sequence":"first","affiliation":[{"name":"U.O. Neurochirurgia Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Severino","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroradiologia Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Rossi","sequence":"additional","affiliation":[{"name":"Dipartimento di Neuroradiologia Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Nozza","sequence":"additional","affiliation":[{"name":"U.O. Anatomia Patologica Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Doneda","sequence":"additional","affiliation":[{"name":"Dipartimento di Radiologia e Neuroradiologia Ospedale dei bambini V. Buzzi Milano Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Perri","sequence":"additional","affiliation":[{"name":"Clinica Pediatrica Istituto G. Gaslini Universit\u00e0 di Genova Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Pavanello","sequence":"additional","affiliation":[{"name":"U.O. Neurochirurgia Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Fiorio","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Gimelli","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Tassano","sequence":"additional","affiliation":[{"name":"Laboratorio di Citogenetica Istituto G. Gaslini Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Di Battista","sequence":"additional","affiliation":[{"name":"Clinica Pediatrica Istituto G. Gaslini Universit\u00e0 di Genova Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,12,5]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34049"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/SCS.0b013e318231fe6c"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-0150"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2010-3849"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1330853"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.05.006"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1104017"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2332"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1086\/323764"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00441-008-0715-4"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/SAP.0b013e318062abc1"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-200111000-00017"},{"key":"e_1_2_8_14_1","first-page":"41","article-title":"Prenatal diagnosis and molecular characterization of an interstitial 1q24. 3\u201031.3 deletion: Case report and review","volume":"22","author":"Prontera P","year":"2011","journal-title":"Genet Couns"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2331"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.162349799"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-198308000-00006"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1324401"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130411"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-199810000-00041"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.36283","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.36283","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T09:20:31Z","timestamp":1696584031000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.36283"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,12,5]]},"references-count":19,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2014,2]]}},"alternative-id":["10.1002\/ajmg.a.36283"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.36283","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,12,5]]}}}