{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T18:12:09Z","timestamp":1787508729899,"version":"build-2736575974"},"reference-count":19,"publisher":"Wiley","issue":"3-4","license":[{"start":{"date-parts":[[2018,7,23]],"date-time":"2018-07-23T00:00:00Z","timestamp":1532304000000},"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":["Clinical Genetics"],"published-print":{"date-parts":[[2018,10]]},"abstract":"<jats:p>\n                    By describing 10 new patients recruited in centres for Human Genetics, we further delineate the clinical spectrum of a Crouzon\u2010like craniosynostosis disorder, officially termed craniosynostosis and dental anomalies (MIM614188). Singularly, it is inherited according to an autosomal recessive mode of inheritance. We identified six missense mutations in\n                    <jats:italic>IL11RA,<\/jats:italic>\n                    a gene encoding the alpha subunit of interleukin 11 receptor, 4 of them being novel, including 2 in the Ig\u2010like C2\u2010type domain. A subset of patients had an associated connective tissue disorder with joint hypermobility and intervertebral discs fragility. A smaller number of teeth anomalies than that previously reported in the two large series of patients evaluated in dental institutes points toward an ascertainment bias.\n                  <\/jats:p>","DOI":"10.1111\/cge.13409","type":"journal-article","created":{"date-parts":[[2018,6,21]],"date-time":"2018-06-21T04:30:34Z","timestamp":1529555434000},"page":"373-380","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["<i>IL11RA\u2010<\/i>\n                    related Crouzon\u2010like autosomal recessive craniosynostosis in 10 new patients: Resemblances and differences"],"prefix":"10.1111","volume":"94","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4816-1431","authenticated-orcid":false,"given":"E.","family":"Brischoux\u2010Boucher","sequence":"first","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3457-5684","authenticated-orcid":false,"given":"A.","family":"Trimouille","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Service de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1211 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7435-0298","authenticated-orcid":false,"given":"G.","family":"Baujat","sequence":"additional","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence Maladies Osseuses Constitutionnelles, Institut Imagine Universit\u00e9 Paris Descartes\u2010Sorbonne Paris Cit\u00e9  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5864-9182","authenticated-orcid":false,"given":"A.","family":"Goldenberg","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique, Centre Normand de G\u00e9nomique M\u00e9dicale et M\u00e9decine Personnalis\u00e9e Centre Hospitalier et Universitaire, Universit\u00e9 de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Schaefer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier et Universitaire, H\u00f4pital de Hautepierre, Universit\u00e9 de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Guichard","sequence":"additional","affiliation":[{"name":"Service de Chirurgie Maxillo\u2010Faciale Centre Hospitalier et Universitaire, Universit\u00e9 de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Hannequin","sequence":"additional","affiliation":[{"name":"Service de Neurochirurgie Centre Hospitalier et Universitaire, Universit\u00e9 de Rouen  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Paternoster","sequence":"additional","affiliation":[{"name":"Service de Neurochirurgie P\u00e9diatrique H\u00f4pital Necker\u2010Enfants Malades  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4951-2552","authenticated-orcid":false,"given":"S.","family":"Baer","sequence":"additional","affiliation":[{"name":"Service de G\u00e9n\u00e9tique M\u00e9dicale Centre Hospitalier et Universitaire, H\u00f4pital de Hautepierre, Universit\u00e9 de Strasbourg  Strasbourg France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Cabrol","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6493-4054","authenticated-orcid":false,"given":"E.","family":"Weber","sequence":"additional","affiliation":[{"name":"Service de Chirurgie Maxillo\u2010Faciale Centre Hospitalier et Universitaire, Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Godfrin","sequence":"additional","affiliation":[{"name":"Service de Neurochirurgie Centre Hospitalier et Universitaire, Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5936-9070","authenticated-orcid":false,"given":"M.","family":"Lenoir","sequence":"additional","affiliation":[{"name":"Service de Radiologie Centre Hospitalier et Universitaire, Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8956-2207","authenticated-orcid":false,"given":"D.","family":"Lacombe","sequence":"additional","affiliation":[{"name":"CHU Bordeaux, Service de G\u00e9n\u00e9tique M\u00e9dicale, INSERM U1211 Universit\u00e9 de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6990-863X","authenticated-orcid":false,"given":"C.","family":"Collet","sequence":"additional","affiliation":[{"name":"Service de Biochimie et Biologie Mol\u00e9culaire Groupement Hospitalier et Universitaire Lariboisi\u00e8re, Assistance Publique \u2013 H\u00f4pitaux de Paris, Universit\u00e9 Paris\u2010Descartes  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8880-5214","authenticated-orcid":false,"given":"L.","family":"Van Maldergem","sequence":"additional","affiliation":[{"name":"Centre de G\u00e9n\u00e9tique Humaine Universit\u00e9 de Franche\u2010Comt\u00e9  Besan\u00e7on France"},{"name":"Integrative and Cognitive Neurosciences Research Unit EA481 University of Franche\u2010Comt\u00e9  Besan\u00e7on France"},{"name":"Clinical Investigation Center 1431 National Institute of Health and Medical Research (INSERM), University of Franche\u2010Comt\u00e9  Besan\u00e7on France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,7,23]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.024"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.28"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2016-104215"},{"key":"e_1_2_6_5_1","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1007\/8904_2013_249","article-title":"A Novel Large Deletion Encompassing the Whole of the Galactose\u22121\u2010Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities","volume":"12","author":"Papachristoforou R","year":"2014","journal-title":"JIMD Rep"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000103)90:1<82::AID-AJMG15>3.0.CO;2-5"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32208"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320550422"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2015.07.006"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0994-98"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1194-275"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0295-165"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1096-174"},{"key":"e_1_2_6_14_1","volume-title":"GeneReviews(\u00ae)","author":"Robin NH","year":"1993"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1097\/00001665-199701000-00006"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1086\/302831"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.10.1.89"},{"issue":"7","key":"e_1_2_6_18_1","doi-asserted-by":"crossref","first-page":"2534","DOI":"10.1182\/blood.V86.7.2534.bloodjournal8672534","article-title":"Molecular cloning of two isoforms of a receptor for the human hematopoietic cytokine interleukin\u221211","volume":"86","author":"Ch\u00e9rel M","year":"1995","journal-title":"Blood"},{"key":"e_1_2_6_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/17.6.1665"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1516767"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.13409","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.13409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,9]],"date-time":"2023-09-09T07:51:28Z","timestamp":1694245888000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.13409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7,23]]},"references-count":19,"journal-issue":{"issue":"3-4","published-print":{"date-parts":[[2018,10]]}},"alternative-id":["10.1111\/cge.13409"],"URL":"https:\/\/doi.org\/10.1111\/cge.13409","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,7,23]]},"assertion":[{"value":"2018-03-30","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-06-15","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-07-23","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}