{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:08:21Z","timestamp":1792166901584,"version":"4.4.0"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,6,2]],"date-time":"2016-06-02T00:00:00Z","timestamp":1464825600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["DECIDE, DFG WA 1597\/4\u20101"],"award-info":[{"award-number":["DECIDE, DFG WA 1597\/4\u20101"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003483","name":"Hebrew University of Jerusalem","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003483","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2017,7]]},"abstract":"<jats:p>Autosomal recessive malignant infantile osteopetrosis is a congenital disease characterized by pathologically increased bone density. Recently, the use of whole exome sequencing has been utilized as a clinical diagnostic tool in a number of Mendelian disorders. In this study, whole exome sequencing (<jats:styled-content style=\"fixed-case\">WES<\/jats:styled-content>) was successfully used in six patients with malignant infantile osteopetrosis (<jats:styled-content style=\"fixed-case\">MIOP<\/jats:styled-content>) and identified mutations in four\u2009<jats:styled-content style=\"fixed-case\">MIOP<\/jats:styled-content>\u2010related genes <jats:italic>(<jats:styled-content style=\"fixed-case\">CLCN7<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">TCIRG1<\/jats:styled-content>, <jats:styled-content style=\"fixed-case\">SNX10<\/jats:styled-content><\/jats:italic>, and <jats:italic><jats:styled-content style=\"fixed-case\">TNFRSF11A<\/jats:styled-content>).<\/jats:italic> We report these patients, describe the mutations and review the current literature.<\/jats:p>","DOI":"10.1111\/cge.12804","type":"journal-article","created":{"date-parts":[[2016,5,17]],"date-time":"2016-05-17T12:46:42Z","timestamp":1463489202000},"page":"80-85","source":"Crossref","is-referenced-by-count":23,"title":["The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis"],"prefix":"10.1111","volume":"92","author":[{"given":"O.","family":"Shamriz","sequence":"first","affiliation":[{"name":"Division of Pediatrics Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Shaag","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Yaacov","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"NaserEddin","sequence":"additional","affiliation":[{"name":"Division of Pediatrics Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Weintraub","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology and Bone Marrow Transplantation Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Elpeleg","sequence":"additional","affiliation":[{"name":"Monique and Jacques Roboh Department of Genetic Research Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Stepensky","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\u2010Oncology and Bone Marrow Transplantation Hadassah\u2010Hebrew University Medical Center  Jerusalem Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,2]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrendo.2013.137"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s002470100008"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2007.08.029"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1306555"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0110-13"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.234"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2011-100520"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2015.00067"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cct.2014.06.016"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta19460"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00198-013-2290-0"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.4274\/jcrpe.2597"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.559"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds326"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.06.015"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1418631112"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12804","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12804","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12804","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,2]],"date-time":"2023-10-02T22:18:56Z","timestamp":1696285136000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,2]]},"references-count":16,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2017,7]]}},"alternative-id":["10.1111\/cge.12804"],"URL":"https:\/\/doi.org\/10.1111\/cge.12804","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,2]]}}}