{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T17:01:20Z","timestamp":1778173280074,"version":"3.51.4"},"reference-count":25,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T00:00:00Z","timestamp":1497484800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Case Reports"],"published-print":{"date-parts":[[2017,8]]},"abstract":"<jats:title>Key Clinical Message<\/jats:title>\n                  <jats:p>Clinical geneticists, neurologists, psychiatrists, and other healthcare providers can learn from this case report that patients with a behavioral phenotype that includes a mild learning disability may also require a thorough examination, including brain MRI and whole\u2010exome sequencing.<\/jats:p>","DOI":"10.1002\/ccr3.1038","type":"journal-article","created":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T07:22:53Z","timestamp":1497511373000},"page":"1213-1217","source":"Crossref","is-referenced-by-count":10,"title":["A novel mutation in L1CAM causes a mild form of L1 syndrome: a case report"],"prefix":"10.1002","volume":"5","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2113-6818","authenticated-orcid":false,"given":"Maarten","family":"Otter","sequence":"first","affiliation":[{"name":"Department of Community Mental Health in Learning Disabilities Trajectum Zutphen The Netherlands"},{"name":"Forensic Psychiatric Department STEVIG\/Dichterbij Oostrum The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marijke","family":"Wevers","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics University Medical Center, Utrecht Utrecht The Netherlands"},{"name":"Department of Clinical Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marline","family":"Pisters","sequence":"additional","affiliation":[{"name":"Department of Community Mental Health in Learning Disabilities Trajectum Zutphen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rolph","family":"Pfundt","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yvonne","family":"Vos","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center, Groningen Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rutger Jan","family":"Nievelstein","sequence":"additional","affiliation":[{"name":"Department of Radiology and Nuclear Medicine University Medical Center, Utrecht\/Wilhelmina Children's Hospital Utrecht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance","family":"Stumpel","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics and School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,6,15]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00607.x"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.6.879"},{"key":"e_1_2_7_4_1","unstructured":"2004 University of Washington Seattle Seattle (WA) C. Stumpel Y. J. Vos R. A. Pagon M. P. Adam H. H. Ardinger L1 Syndrome"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/18.17.4744"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.4161\/tisb.28426"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.4067\/S0716-97602012000300005"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22450"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/j.1460-2075.1996.tb00993.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570122"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12883-016-0566-7"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/dmcn.12978"},{"key":"e_1_2_7_13_1","volume-title":"WAIS III\u2010NL: Wechsler Adult Intelligence Scale III\u2010NL","author":"Wechsler D.","year":"2005"},{"key":"e_1_2_7_14_1","volume-title":"A compendium of neuropsychological tests: administration, norms, and commentary","author":"Strauss E.","year":"2006"},{"key":"e_1_2_7_15_1","volume-title":"TEA\u2010Ch. Test of everyday attention for children","author":"Manly T.","year":"1999"},{"key":"e_1_2_7_16_1","unstructured":"2007 Harcourt Amsterdam M. Schittekatte H. Groenvynck J. R. J. Fontaine P. H. Dekker Aanvullend psychometrisch onderzoek met de Test of Everyday Attention for Children (TEACH): In Nederland en Vlaanderen aangepaste normen en nieuwe validiteits\u2010 en betrouwbaarheidsgegevens"},{"key":"e_1_2_7_17_1","volume-title":"Stroop Kleur\u2010Woord Test","author":"Hammes J. G. W.","year":"1978"},{"key":"e_1_2_7_18_1","volume-title":"d2 Aandachts\u2010 en concentratietest","author":"Brickenkamp R.","year":"2002"},{"key":"e_1_2_7_19_1","unstructured":"Ross R. M.2005.The D2 Test of Attention: An Examination of Age Gender and Cross\u2010cultural Indices: Argosy University."},{"key":"e_1_2_7_20_1","volume-title":"BADS\u2010NL; behavioural assessment of the dysexecutive syndrome","author":"Wilson B. A.","year":"1997"},{"key":"e_1_2_7_21_1","volume-title":"WFT & FFT Woord\u2010 en figuur\u2010fluencytest; handleiding","author":"Mulder J.","year":"2006"},{"key":"e_1_2_7_22_1","unstructured":"Meyers J. E. andK. R.Meyers.1995.Rey Complex Figure Test and Recognition Trial: RCFT: Psychological Assessment Resources."},{"key":"e_1_2_7_23_1","volume-title":"Manual: Hooper visual organization test","author":"Hooper H. E.","year":"1958"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.15453\/2168-6408.1178"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1037\/h0061266"},{"key":"e_1_2_7_26_1","volume-title":"Nederlandse Persoonlijkheids Vragenlijst\u20102 Handleiding","author":"Barelds D. P. H.","year":"2007"}],"container-title":["Clinical Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fccr3.1038","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ccr3.1038","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,30]],"date-time":"2025-11-30T06:30:53Z","timestamp":1764484253000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ccr3.1038"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,6,15]]},"references-count":25,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2017,8]]}},"alternative-id":["10.1002\/ccr3.1038"],"URL":"https:\/\/doi.org\/10.1002\/ccr3.1038","archive":["Portico"],"relation":{},"ISSN":["2050-0904","2050-0904"],"issn-type":[{"value":"2050-0904","type":"print"},{"value":"2050-0904","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,6,15]]}}}