{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:15:02Z","timestamp":1761718502627},"reference-count":5,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2016,8,12]],"date-time":"2016-08-12T00:00:00Z","timestamp":1470960000000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Med Case Reports"],"published-print":{"date-parts":[[2016,12]]},"DOI":"10.1186\/s13256-016-0997-1","type":"journal-article","created":{"date-parts":[[2016,8,12]],"date-time":"2016-08-12T01:11:15Z","timestamp":1470964275000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Increased homozygosity in the first Hispanic patient with plantar lipomatosis, unusual facies, and developmental delay (Pierpont syndrome): a case report"],"prefix":"10.1186","volume":"10","author":[{"given":"Siobh\u00e1n","family":"O\u2019Keefe","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dieter T.","family":"Wefuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jennifer B.","family":"Humberson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Schmidt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Wiley","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2016,8,12]]},"reference":[{"key":"997_CR1","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1002\/ajmg.a.30863","volume":"137A","author":"GG Oudesluijs","year":"2005","unstructured":"Oudesluijs GG, Hordijk R, Boon M, Sijens PE, Hennekam RC. Plantar lipomatosis, unusual facies, and developmental delay: Confirmation of Pierpont syndrome. Am J Med Genet. 2005;137A:77\u201380.","journal-title":"Am J Med Genet"},{"key":"997_CR2","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1002\/(SICI)1096-8628(19980106)75:1<18::AID-AJMG5>3.0.CO;2-M","volume":"75","author":"MEM Pierpont","year":"1998","unstructured":"Pierpont MEM, Stewart FJ, Gorlin RJ. Plantar lipomatosis, unusual facial phenotype and developmental delay: A new MCA\/MR syndrome. Am J Med Genet. 1998;75:18\u201321.","journal-title":"Am J Med Genet"},{"issue":"2","key":"997_CR3","doi-asserted-by":"publisher","first-page":"115","DOI":"10.3171\/2012.10.PEDS12219","volume":"11","author":"S Vadievelu","year":"2013","unstructured":"Vadievelu S, Edelman M, Schneider SJ, Mittler MA. Choroid plexus papilloma and Pierpont syndrome. J Neurosurg Pediatr. 2013;11(2):115\u20138.","journal-title":"J Neurosurg Pediatr"},{"issue":"9","key":"997_CR4","doi-asserted-by":"publisher","first-page":"2203","DOI":"10.1002\/ajmg.a.34147","volume":"155A","author":"EM Wright","year":"2011","unstructured":"Wright EM, Suri M, White SM, de Leeuw N, Vulto-van Silfhout AT, Stewart F, et al. Pierpont syndrome: a collaborative study. Am J Med Genet. 2011;155A(9):2203\u201311.","journal-title":"Am J Med Genet"},{"issue":"5","key":"997_CR5","doi-asserted-by":"publisher","first-page":"354","DOI":"10.1038\/gim.2012.136","volume":"15","author":"KJ Wierenga","year":"2013","unstructured":"Wierenga KJ, Jiang Z, Yang AC, Mulvihill JJ, Tsinorema NF. A clinical evaluation tool for SNP arrays, especially for autosomal consanguineous parents. Genet Med. 2013;15(5):354\u201360.","journal-title":"Genet Med"}],"container-title":["Journal of Medical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-016-0997-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s13256-016-0997-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-016-0997-1","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s13256-016-0997-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,2,22]],"date-time":"2017-02-22T01:09:46Z","timestamp":1487725786000},"score":1,"resource":{"primary":{"URL":"http:\/\/jmedicalcasereports.biomedcentral.com\/articles\/10.1186\/s13256-016-0997-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,12]]},"references-count":5,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2016,12]]}},"alternative-id":["997"],"URL":"https:\/\/doi.org\/10.1186\/s13256-016-0997-1","relation":{},"ISSN":["1752-1947"],"issn-type":[{"value":"1752-1947","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,12]]},"article-number":"223"}}