{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T08:12:08Z","timestamp":1783930328504,"version":"3.55.0"},"reference-count":5,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T00:00:00Z","timestamp":1557100800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2019,6]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Megalencephaly\u2010polymicrogyria\u2010polydactyly\u2010hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K\u2010AKT pathway. Only a few patients with\n CCND2<\/jats:italic>\n mutations have been reported to date.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n We describe an individual harboring a de novo variant in\n CCND2<\/jats:italic>\n undergoing neuroradiological evaluation including diffusion tensor imaging (DTI).\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n The individual presented with a severe brain malformation extending to both brainstem and cerebellum with hypomyelination not previously reported in\n CCND2<\/jats:italic>\n \u2010related disorder. Severe hypoplasia and white matter disorganization were confirmed by DTI.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n This report expands the phenotypic spectrum of the disorder due to\n CCND2<\/jats:italic>\n variants.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.708","type":"journal-article","created":{"date-parts":[[2019,5,6]],"date-time":"2019-05-06T15:12:40Z","timestamp":1557155560000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Severe presentation and complex brain malformations in an individual carrying a\n CCND2<\/i>\n variant"],"prefix":"10.1002","volume":"7","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3934-2342","authenticated-orcid":false,"given":"Gerarda","family":"Cappuccio","sequence":"first","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine Pozzuoli, Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorenzo","family":"Ugga","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Parrini","sequence":"additional","affiliation":[{"name":"Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A. Meyer Children's Hospital University of Florence Florence Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"D\u2019Amico","sequence":"additional","affiliation":[{"name":"Department of Advanced Biomedical Sciences Federico II University Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6895-8819","authenticated-orcid":false,"given":"Nicola","family":"Brunetti\u2010Pierri","sequence":"additional","affiliation":[{"name":"Department of Translational Medicine Federico II University Naples Italy"},{"name":"Telethon Institute of Genetics and Medicine Pozzuoli, Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,5,6]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-985908"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0038-1641722"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.13145"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2948"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31361"}],"container-title":["Molecular Genetics & Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmgg3.708","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.708","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mgg3.708","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.708","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T07:52:02Z","timestamp":1783929122000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5,6]]},"references-count":5,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1002\/mgg3.708"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.708","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,5,6]]},"assertion":[{"value":"2019-03-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-08","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-05-06","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e708"}}