{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T23:16:49Z","timestamp":1789514209104,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T00:00:00Z","timestamp":1513555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100008488","name":"Stiftelsen Alma och K. A. Snellman S\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008488","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010129","name":"Maud Kuistilan Muistos\u00e4\u00e4ti\u00f6","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010129","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100010128","name":"Lasten Sy\u00f6p\u00e4s\u00e4\u00e4ti\u00f6 V\u00e4reen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100010128","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:p>Inherited bone marrow failure syndromes (<jats:styled-content style=\"fixed-case\">IBMFS<\/jats:styled-content>) are group of disorders that lead to inadequate production of blood cells. Mutations in genes involved in telomere maintenance, <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> repair, and the cell cycle cause <jats:styled-content style=\"fixed-case\">IBMFS<\/jats:styled-content>. <jats:italic><jats:styled-content style=\"fixed-case\">ERCC6L2<\/jats:styled-content><\/jats:italic> gene mutations have been associated with bone marrow failure that includes developmental delay and microcephaly. We report 2 cases of bone marrow failure with no extra\u2010hematopoietic manifestations in patients from unrelated families with a homozygous truncating mutation in <jats:italic><jats:styled-content style=\"fixed-case\">ERCC6L2<\/jats:styled-content><\/jats:italic>. Bone marrow failure without developmental delay or microcephaly with <jats:italic><jats:styled-content style=\"fixed-case\">ERCC6L2<\/jats:styled-content><\/jats:italic> mutation has not been previously described.<\/jats:p>","DOI":"10.1111\/cge.13125","type":"journal-article","created":{"date-parts":[[2017,8,17]],"date-time":"2017-08-17T07:42:43Z","timestamp":1502955763000},"page":"392-395","source":"Crossref","is-referenced-by-count":31,"title":["Bone marrow failure syndrome caused by homozygous frameshift mutation in the <i><scp>ERCC6L2<\/scp><\/i> gene"],"prefix":"10.1111","volume":"93","author":[{"given":"T.","family":"J\u00e4rviaho","sequence":"first","affiliation":[{"name":"PEDEGO Research Unit University of Oulu  Oulu Finland"},{"name":"Medical Research Center University of Oulu and Oulu University Hospital  Oulu Finland"},{"name":"Biocenter Oulu University of Oulu  Oulu 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