{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:40:03Z","timestamp":1760737203177,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,1,1]]},"DOI":"10.1136\/jmg.38.1.e3","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"e3-e3","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":17,"title":["Atypical clinical picture of the Nijmegen breakage syndrome associated with developmental abnormalities of the brain"],"prefix":"10.1136","volume":"38","author":[{"given":"KRYSTYNA H","family":"CHRZANOWSKA","sequence":"first","affiliation":[{"name":"*Department of Medical Genetics, The Children's Memorial Health Institute, Al Dzieci Polskich, 04-736 Warsaw, Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MARKUS","family":"STUMM","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MONIKA","family":"BEKIESI\u0143SKA-FIGATOWSKA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RAYMONDA","family":"VARON","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MAGDALENA","family":"BIA\u0141ECKA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"HANNA","family":"GREGOREK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"JACEK","family":"MICHA\u0141KIEWICZ","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"MA\u0141GORZATA","family":"KRAJEWSKA-WALASEK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"SERGIUSZ","family":"J\u00d3\u0179WIAK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ANDR\u00c9","family":"REIS","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2001,1,1]]},"reference":[{"key":"2025101713594104000_38.1.e3.1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320570321"},{"key":"2025101713594104000_38.1.e3.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.2.153"},{"key":"2025101713594104000_38.1.e3.3","unstructured":"Wegner RD Chrzanowska K Sperling K Stumm M (1999) Ataxia-telangiectasia variants (Nijmegen breakage syndrome) In: Ochs HD, Smith CIE, Puck JM, ed. Primary immunodeficiency diseases. A molecular and genetic approach. (Oxford University Press, Oxford), pp 324\u2013334."},{"key":"2025101713594104000_38.1.e3.4","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81174-5"},{"key":"2025101713594104000_38.1.e3.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81175-7"},{"key":"2025101713594104000_38.1.e3.6","unstructured":"Auerbach AD Buchwald M Joenje H (1998) Fanconi anemia. in The genetic basis of human cancer. eds Vogelstein B Kinzler KW (McGraw-Hill, New York), pp 317\u2013332."},{"key":"2025101713594104000_38.1.e3.7","doi-asserted-by":"publisher","DOI":"10.1080\/09553009414551821"},{"key":"2025101713594104000_38.1.e3.8","doi-asserted-by":"publisher","DOI":"10.1007\/s002340050011"},{"key":"2025101713594104000_38.1.e3.9","doi-asserted-by":"publisher","DOI":"10.1007\/BF00588526"},{"key":"2025101713594104000_38.1.e3.10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320332"},{"key":"2025101713594104000_38.1.e3.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.2.136"},{"key":"2025101713594104000_38.1.e3.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961002)65:1<21::AID-AJMG3>3.0.CO;2-0"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.1.e3","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T20:59:47Z","timestamp":1760734787000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.1.e3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,1,1]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2001,1,1]]},"published-print":{"date-parts":[[2001,1,1]]}},"alternative-id":["10.1136\/jmg.38.1.e3"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.1.e3","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[2001,1,1]]}}}