{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T12:32:16Z","timestamp":1791117136809,"version":"4.1.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T00:00:00Z","timestamp":1431302400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T00:00:00Z","timestamp":1431302400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["EMBO Mol Med"],"published-print":{"date-parts":[[2015,7,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Mutations in the\n                    <jats:italic>XRCC4<\/jats:italic>\n                    gene have been recently identified through whole\u2010exome sequencing (WES). While the overall clinical presentation of the patients (severe short stature, microcephaly, gonadal failure) generally conforms with what is expected for the defect of a critical non\u2010homologous end\u2010joining (NHEJ) DNA repair factor, the absence of consequence on the proper development of the immune system is rather surprising, given the role of NHEJ in V(D)J recombination. Several hypotheses can be envisioned to explain this discrepancy. Overall, these findings highlight the power of WES in identifying new molecular causes for human diseases while providing with new exciting scientific question to address.\n                  <\/jats:p>","DOI":"10.15252\/emmm.201505307","type":"journal-article","created":{"date-parts":[[2015,5,11]],"date-time":"2015-05-11T21:02:15Z","timestamp":1431378135000},"page":"862-864","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":23,"title":["When natural mutants do not fit our expectations: the intriguing case of patients with XRCC4 mutations revealed by whole\u2010exome sequencing"],"prefix":"10.1038","volume":"7","author":[{"given":"Jean\u2010Pierre","family":"de Villartay","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2015,5,11]]},"reference":[{"key":"BFEMMM201505307_CR1","doi-asserted-by":"crossref","first-page":"918","DOI":"10.15252\/emmm.201404803","volume":"7","author":"L Bee","year":"2015","unstructured":"Bee L, Nasca A, Zanolini A, Cendron F, d'Adamo P, Costa R, Lamperti C, Celotti L, Ghezzi D, Zeviani M (2015) A nonsense mutation of human XRCC4 is associated with adult\u2010onset progressive encephalocardiomyopathy. 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