{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T01:39:52Z","timestamp":1775093992604,"version":"3.50.1"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"5","license":[{"start":{"date-parts":[[2004,4,28]],"date-time":"2004-04-28T00:00:00Z","timestamp":1083110400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2004,4,28]],"date-time":"2004-04-28T00:00:00Z","timestamp":1083110400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Perinatol"],"published-print":{"date-parts":[[2004,5,1]]},"DOI":"10.1038\/sj.jp.7211081","type":"journal-article","created":{"date-parts":[[2004,4,28]],"date-time":"2004-04-28T16:13:19Z","timestamp":1083168799000},"page":"312-314","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["Chloride Channel CICN7 Mutations in a Korean Patient with Infantile Malignant Osteopetrosis Initially Presenting with Neonatal Thrombocytopenia"],"prefix":"10.1038","volume":"24","author":[{"given":"Youn-Jeong","family":"Shin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"So Eun","family":"Park, MD","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghyu Hong","family":"Shim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jin A","family":"Lee","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ee Kyung","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun Dong","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beyong IL","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jung Hwan","family":"Choi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annalisa","family":"Frattini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2004,4,28]]},"reference":[{"key":"BF7211081_CR1","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","volume":"93","author":"EJ Gerritsen","year":"1994","unstructured":"Gerritsen EJ, Vossen JM, van Loo IHG, et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994;93:247\u2013253.","journal-title":"Pediatrics"},{"key":"BF7211081_CR2","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","volume":"10","author":"C Sobacchi","year":"2001","unstructured":"Sobacchi C, Frattini A, Orchard P, et al. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet 2001;10:1767\u20131773.","journal-title":"Hum Mol Genet"},{"key":"BF7211081_CR3","doi-asserted-by":"publisher","first-page":"449","DOI":"10.1136\/adc.83.5.449","volume":"83","author":"CJ Wilson","year":"2000","unstructured":"Wilson CJ, Vellodi A . Autosomal recessive osteopetrosis: diagnosis, management, and outcome. Arch Dis Child 2000;83:449\u2013452.","journal-title":"Arch Dis Child"},{"key":"BF7211081_CR4","doi-asserted-by":"publisher","first-page":"F21","DOI":"10.1136\/fn.83.1.F21","volume":"83","author":"C-J Chen","year":"2000","unstructured":"Chen C-J, Lee M-Y, Hsu M-L, Lien S-H, Cheng S-N . Malignant infantile osteopetrosis presenting with neonatal hypocalcemia. Arch Dis Child Fetal Neonatal Ed 2000;83:F21\u2013F23.","journal-title":"Arch Dis Child Fetal Neonatal Ed"},{"key":"BF7211081_CR5","doi-asserted-by":"publisher","first-page":"149","DOI":"10.1097\/00005792-196803000-00004","volume":"47","author":"CC Johnston","year":"1968","unstructured":"Johnston CC, Lavy N, Lord T, Vellios F, Merritt AD, Deiss WP . Osteopetrosis: a clinical, genetic, metabolic morphologic study of the dominantly inherited, benign form. Medicine 1968;47:149\u2013167.","journal-title":"Medicine"},{"key":"BF7211081_CR6","doi-asserted-by":"publisher","first-page":"229","DOI":"10.1055\/s-2002-36720","volume":"6","author":"DJ Stocker","year":"2002","unstructured":"Stocker DJ . Osteopetrosis. Semin Musculoskelet Radiol 2002;6:229\u2013305.","journal-title":"Semin Musculoskelet Radiol"},{"key":"BF7211081_CR7","doi-asserted-by":"publisher","first-page":"4160","DOI":"10.1210\/endo.138.10.5438","volume":"138","author":"T Wakikawa","year":"1997","unstructured":"Wakikawa T, Shioi A, Hino M, et al. Thrombopoietin inhibits in vitro osteoclastogenesis from murine bone marrow cells. Endocrinology 1997;138:4160\u20134166.","journal-title":"Endocrinology"},{"key":"BF7211081_CR8","doi-asserted-by":"publisher","first-page":"896","DOI":"10.1016\/S0022-3476(05)82004-9","volume":"125","author":"EJ Gerritsen","year":"1994","unstructured":"Gerritsen EJ, Vossen JM, Fasth A, et al. Bone marrow transplantation for autosomal recessive osteopetrosis. A report from the working party on inborn errors of the European Bone Marrow Transplantation Group. J Pediatr 1994;125:896\u2013902.","journal-title":"J Pediatr"},{"key":"BF7211081_CR9","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1542\/peds.103.3.700","volume":"103","author":"P Colarizi","year":"1999","unstructured":"Colarizi P, Fiorucci P, Roggini M, Papoff P . Circulation thrombopoietin Levels in a neonate with osteopetrosis. Pediatrics 1999;103:700\u2013701.","journal-title":"Pediatrics"},{"key":"BF7211081_CR10","first-page":"447","volume":"44","author":"P Papoff","year":"1998","unstructured":"Papoff P, Roggini M, Ficuccilli F, et al. Thrombopoietin (Tpo) Levels in neonatal osteopetrosis. Pdiatr Res 1998;44:447.","journal-title":"Pdiatr Res"},{"key":"BF7211081_CR11","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","volume":"104","author":"U Kornak","year":"2001","unstructured":"Kornak U, Kasper D, Bosl MR, et al. Loss of the CLC-7 chloride channel leads to osteopetrosis in mice and man. Cell 2001;104:205\u2013215.","journal-title":"Cell"},{"key":"BF7211081_CR12","doi-asserted-by":"publisher","first-page":"2861","DOI":"10.1093\/hmg\/10.25.2861","volume":"10","author":"E Cleiren","year":"2001","unstructured":"Cleiren E, Benichou O, Van Hul E, et al. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutaions in the ClCN7 chloride channel gene. Hum Mol Genet 2001;10:2861\u20132867.","journal-title":"Hum Mol Genet"},{"key":"BF7211081_CR13","doi-asserted-by":"crossref","first-page":"186","DOI":"10.1007\/s00439-002-0861-9","volume":"112","author":"AB Campos-Xavier","year":"2003","unstructured":"Campos-Xavier AB, Saraiva JM, Ribeiro LM, Munnich A, Cormier-Dair V . Chloride channel 7 (ClCN7) gene mutations in intermediate autosomal recessive osteopetrosis. Hum Genet 2003;112:186\u2013189.","journal-title":"Hum Genet"},{"key":"BF7211081_CR14","doi-asserted-by":"publisher","first-page":"436","DOI":"10.1016\/S8756-3282(01)00684-6","volume":"30","author":"T Michigami","year":"2002","unstructured":"Michigami T, Kageyama T, Satomura K, et al. Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. Bone 2002;30:436\u2013439.","journal-title":"Bone"},{"key":"BF7211081_CR15","doi-asserted-by":"publisher","first-page":"343","DOI":"10.1038\/77131","volume":"25","author":"F Frattini","year":"2000","unstructured":"Frattini F, Orchard PJ, Sobacchi C, et al. Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25:343\u2013346.","journal-title":"Nat Genet"},{"key":"BF7211081_CR16","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/nm842","volume":"9","author":"N Chalhoub","year":"2003","unstructured":"Chalhoub N, Benachenhou N, Rajapurohitam V, et al. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med 2003;9:399\u2013406.","journal-title":"Nat Med"}],"updated-by":[{"DOI":"10.1038\/sj.jp.7211162","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2004,8,26]],"date-time":"2004-08-26T00:00:00Z","timestamp":1093478400000}}],"container-title":["Journal of Perinatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/7211081.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/7211081","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/7211081.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,18]],"date-time":"2022-03-18T16:38:37Z","timestamp":1647621517000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/7211081"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,4,28]]},"references-count":16,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2004,5,1]]}},"alternative-id":["BF7211081"],"URL":"https:\/\/doi.org\/10.1038\/sj.jp.7211081","relation":{"erratum":[{"id-type":"doi","id":"10.1038\/sj.jp.7211162","asserted-by":"object"}]},"ISSN":["0743-8346","1476-5543"],"issn-type":[{"value":"0743-8346","type":"print"},{"value":"1476-5543","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,4,28]]},"assertion":[{"value":"28 April 2004","order":1,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}