{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T06:35:51Z","timestamp":1764484551768,"version":"3.46.0"},"reference-count":15,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T00:00:00Z","timestamp":1496361600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>\n                    Barber\u2010Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism.\n                    <jats:italic>TWIST2<\/jats:italic>\n                    gene mutation previously described in this syndrome was identified in our patient. Genetic testing is recommended in patients presenting with these phenotypic abnormalities, along with their parents, to establish de novo or inherited mutations.\n                  <\/jats:p>","DOI":"10.1002\/ccr3.1014","type":"journal-article","created":{"date-parts":[[2017,6,2]],"date-time":"2017-06-02T04:06:46Z","timestamp":1496376406000},"page":"1167-1169","source":"Crossref","is-referenced-by-count":4,"title":["Barber\u2010say syndrome: a confirmed case of\n                    <i>TWIST2<\/i>\n                    gene mutation"],"prefix":"10.1002","volume":"5","author":[{"given":"Mulakkan David","family":"Yohannan","sequence":"first","affiliation":[{"name":"Dayton Children's Hospital One Children's Plaza Dayton OH USA"},{"name":"Pediatrix Medical Group of Ohio One Children's Plaza Dayton OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3021-8361","authenticated-orcid":false,"given":"Jennifer","family":"Hilgeman","sequence":"additional","affiliation":[{"name":"Dayton Children's Hospital One Children's Plaza Dayton OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katlin","family":"Allsbrook","sequence":"additional","affiliation":[{"name":"Dayton Children's Hospital One Children's Plaza Dayton OH USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,2]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33622"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<54::AID-AJMG10>3.0.CO;2-2"},{"key":"e_1_2_7_4_1","first-page":"6","article-title":"Macrostomia, ectropion, atrophic skin, hypertrichosis and growth retardation","volume":"8","author":"Barber N.","year":"1982","journal-title":"Syndrome Identification"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.23.4.355"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971219)73:3<366::AID-AJMG25>3.0.CO;2-G"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32993"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<188::AID-AJMG19>3.0.CO;2-J"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32898"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320470105"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310207"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320390124"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ccr3.128"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.05.017"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.07.009"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000127"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.1014","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.1014","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T06:32:15Z","timestamp":1764484335000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.1014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,2]]},"references-count":15,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1002\/ccr3.1014"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.1014","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"type":"print","value":"2050-0904"},{"type":"electronic","value":"2050-0904"}],"subject":[],"published":{"date-parts":[[2017,6,2]]}}}