{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:31Z","timestamp":1747146211695,"version":"3.40.5"},"reference-count":24,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T00:00:00Z","timestamp":1663804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,12]]},"DOI":"10.1002\/ajmg.a.62970","type":"journal-article","created":{"date-parts":[[2022,9,22]],"date-time":"2022-09-22T12:14:44Z","timestamp":1663848884000},"page":"3558-3562","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The perinatal phenotype of Troyer syndrome: Case report and literature review"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5050-0941","authenticated-orcid":false,"given":"Lisa","family":"Bryson","sequence":"first","affiliation":[{"name":"West of Scotland Clinical Genetics Service Queen Elizabeth University Hospital  Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurie","family":"Anderson","sequence":"additional","affiliation":[{"name":"Fetal Medicine Unit Queen Elizabeth University Hospital  Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Judith","family":"Pagan","sequence":"additional","affiliation":[{"name":"South East Scotland Clinical Genetics Western General Hospital  Edinburgh UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rossella","family":"Hamzollari","sequence":"additional","affiliation":[{"name":"Glasgow City Health and Social Care Partnership Children and Families, Drumchapel Health Centre  Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark J.","family":"Hamilton","sequence":"additional","affiliation":[{"name":"West of Scotland Clinical Genetics Service Queen Elizabeth University Hospital  Glasgow UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,22]]},"reference":[{"key":"e_1_2_1_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.socscimed.2020.113466"},{"key":"e_1_2_1_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050403"},{"volume-title":"GeneReviews\u00ae","year":"2004","author":"Baple E.","key":"e_1_2_1_5_4_1"},{"key":"e_1_2_1_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2012.113"},{"key":"e_1_2_1_5_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-017-0104-3"},{"key":"e_1_2_1_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37658"},{"key":"e_1_2_1_5_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/S096553950800212X"},{"key":"e_1_2_1_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1967.00470230025003"},{"key":"e_1_2_1_5_10_1","doi-asserted-by":"publisher","DOI":"10.1101\/mcs.a001537"},{"key":"e_1_2_1_5_11_1","doi-asserted-by":"publisher","DOI":"10.1096\/fj.201802722R"},{"key":"e_1_2_1_5_12_1","unstructured":"Ellard. (2020).ACGS best practice guidelines for variant classification in rare disease 2020.https:\/\/www.acgs.uk.com\/quality\/best-practice-guidelines\/#VariantGuidelines"},{"key":"e_1_2_1_5_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320530418"},{"key":"e_1_2_1_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5729"},{"key":"e_1_2_1_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5353"},{"key":"e_1_2_1_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.5195"},{"key":"e_1_2_1_5_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.14229"},{"key":"e_1_2_1_5_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.21923"},{"key":"e_1_2_1_5_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng937"},{"issue":"9","key":"e_1_2_1_5_20_1","first-page":"1105","article-title":"Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia","volume":"251","author":"Proukakis C.","year":"2004","journal-title":"Journal of Neurology"},{"key":"e_1_2_1_5_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-02025-7"},{"key":"e_1_2_1_5_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/8904_2016_580"},{"key":"e_1_2_1_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcp.2015.05.006"},{"key":"e_1_2_1_5_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2017.10.489"},{"key":"e_1_2_1_5_25_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2016.138"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62970","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62970","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62970","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,20]],"date-time":"2023-08-20T13:05:53Z","timestamp":1692536753000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62970"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,22]]},"references-count":24,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/ajmg.a.62970"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62970","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2022,9,22]]},"assertion":[{"value":"2022-06-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-24","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-22","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}