{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,19]],"date-time":"2025-09-19T07:38:15Z","timestamp":1758267495248,"version":"3.40.5"},"reference-count":29,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T00:00:00Z","timestamp":1639180800000},"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":[[2022,3]]},"DOI":"10.1002\/ajmg.a.62600","type":"journal-article","created":{"date-parts":[[2021,12,11]],"date-time":"2021-12-11T09:37:19Z","timestamp":1639215439000},"page":"1000-1004","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Tibia hemimelia in a patient with <scp>CHARGE<\/scp> syndrome: A rare but recurrent phenomenon"],"prefix":"10.1002","volume":"188","author":[{"given":"Sietse M.","family":"Aukema","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christa M.","family":"de Geus","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University of Groningen, University Medical Center Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simon G. F.","family":"Robben","sequence":"additional","affiliation":[{"name":"Department of Radiology Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim J. A. F.","family":"van Kaam","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heleen M.","family":"Staal","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Maastricht University Medical Centre  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adhiambo M.","family":"Witlox","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics Maastricht University Medical Centre  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicole A. J.","family":"de la Haye","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Maastricht University Medical Centre (MUMC+)  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Merel","family":"Klaassens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Maastricht University Medical Centre (MUMC+)  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Audrey","family":"Coumans","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology Maastricht University Medical Center  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9736-7137","authenticated-orcid":false,"given":"Alexander P. A.","family":"Stegmann","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and GROW\u2010School for Oncology &amp; Developmental Biology Maastricht University Medical Center+  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dror","family":"Paley","sequence":"additional","affiliation":[{"name":"Paley Orthopedic and Spine Institute  West Palm Beach Florida USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance T. R. M.","family":"Stumpel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and GROW\u2010School for Oncology &amp; Developmental Biology Maastricht University Medical Center+  Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,12,11]]},"reference":[{"key":"e_1_2_1_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32376"},{"key":"e_1_2_1_7_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-019-0649-3"},{"key":"e_1_2_1_7_4_1","doi-asserted-by":"publisher","DOI":"10.4161\/rdis.28688"},{"key":"e_1_2_1_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2015.05.009"},{"key":"e_1_2_1_7_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-1-34"},{"key":"e_1_2_1_7_7_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1213825109"},{"key":"e_1_2_1_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20526"},{"key":"e_1_2_1_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35565"},{"key":"e_1_2_1_7_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/children8060461"},{"key":"e_1_2_1_7_11_1","doi-asserted-by":"publisher","DOI":"10.1097\/BPO.0000000000000280"},{"key":"e_1_2_1_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2008.03681.x"},{"key":"e_1_2_1_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_1_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22086"},{"key":"e_1_2_1_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2019.05.005"},{"key":"e_1_2_1_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31591"},{"key":"e_1_2_1_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-003-0003-9"},{"key":"e_1_2_1_7_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11832-016-0785-x"},{"key":"e_1_2_1_7_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg.2016.167"},{"key":"e_1_2_1_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970120)68:2<179::AID-AJMG11>3.0.CO;2-R"},{"key":"e_1_2_1_7_21_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0607956104"},{"key":"e_1_2_1_7_22_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1001023"},{"key":"e_1_2_1_7_23_1","first-page":"53","volume-title":"Human malformations and related anomalies","author":"Stevenson R. E.","year":"2016"},{"key":"e_1_2_1_7_24_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0039-1692971"},{"key":"e_1_2_1_7_25_1","doi-asserted-by":"publisher","DOI":"10.1002\/wdev.270"},{"key":"e_1_2_1_7_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32008"},{"key":"e_1_2_1_7_27_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31592"},{"key":"e_1_2_1_7_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30559"},{"key":"e_1_2_1_7_29_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_1_7_30_1","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.01305"}],"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.62600","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62600","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62600","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T00:04:09Z","timestamp":1692576249000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62600"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,12,11]]},"references-count":29,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2022,3]]}},"alternative-id":["10.1002\/ajmg.a.62600"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62600","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"type":"print","value":"1552-4825"},{"type":"electronic","value":"1552-4833"}],"subject":[],"published":{"date-parts":[[2021,12,11]]},"assertion":[{"value":"2021-09-27","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-11-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-11","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}