{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T06:52:48Z","timestamp":1772693568562,"version":"3.50.1"},"reference-count":0,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2013,4]]},"DOI":"10.1097\/mcd.0b013e32835e8ce5","type":"journal-article","created":{"date-parts":[[2013,2,8]],"date-time":"2013-02-08T08:08:53Z","timestamp":1360310933000},"page":"64-67","source":"Crossref","is-referenced-by-count":20,"title":["Homozygosity for piebaldism with a proven KIT mutation resulting in depigmentation of the skin and hair, deafness, developmental delay and autism spectrum disorder"],"prefix":"10.1097","volume":"22","author":[{"given":"Amanda J.","family":"Kilsby","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michele","family":"Cruwys","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chelvi","family":"Kukendrajah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Russell-Eggitt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Raglan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kaukab","family":"Rajput","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter","family":"Loshe","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angela F.","family":"Brady","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"276","container-title":["Clinical Dysmorphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.lww.com\/00019605-201304000-00005","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,4]],"date-time":"2021-10-04T02:19:06Z","timestamp":1633313946000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.lww.com\/00019605-201304000-00005"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,4]]},"references-count":0,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2013]]}},"URL":"https:\/\/doi.org\/10.1097\/mcd.0b013e32835e8ce5","relation":{},"ISSN":["0962-8827"],"issn-type":[{"value":"0962-8827","type":"print"}],"subject":[],"published":{"date-parts":[[2013,4]]}}}