{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,14]],"date-time":"2026-09-14T13:58:50Z","timestamp":1789394330341,"version":"build-2803163510"},"reference-count":28,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,4,1]],"date-time":"2017-04-01T00:00:00Z","timestamp":1491004800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"Giovani Ricercatori","award":["GR-2011-02348266"],"award-info":[{"award-number":["GR-2011-02348266"]}]},{"name":"European Community's Seventh Framework Program","award":["FP7\/2007-2013"],"award-info":[{"award-number":["FP7\/2007-2013"]}]},{"name":"Programma Nazionale per la Ricerca-Consiglio Nazionale delle Ricerche Aging Project"},{"name":"Ricerca Finalizzata","award":["PE-2011-02347329"],"award-info":[{"award-number":["PE-2011-02347329"]}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Bone"],"published-print":{"date-parts":[[2017,4]]},"DOI":"10.1016\/j.bone.2017.01.012","type":"journal-article","created":{"date-parts":[[2017,1,14]],"date-time":"2017-01-14T11:00:20Z","timestamp":1484391620000},"page":"126-129","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":16,"special_numbering":"C","title":["Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene"],"prefix":"10.1016","volume":"97","author":[{"given":"Eleonora","family":"Palagano","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary A.","family":"Slatter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9524-8492","authenticated-orcid":false,"given":"Paolo","family":"Uva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ciro","family":"Menale","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Villa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Abinun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Sobacchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bone.2017.01.012_bb0005","doi-asserted-by":"crossref","first-page":"522","DOI":"10.1038\/nrendo.2013.137","article-title":"Osteopetrosis: genetics, treatment and new insights into osteoclast function","volume":"9","author":"Sobacchi","year":"2013","journal-title":"Nat. Rev. Endocrinol."},{"key":"10.1016\/j.bone.2017.01.012_bb0010","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1097\/00003086-199309000-00007","article-title":"Carbonic anhydrase II deficiency","volume":"294","author":"Whyte","year":"1993","journal-title":"Clin. Orthop. Relat. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0015","doi-asserted-by":"crossref","DOI":"10.1542\/peds.109.6.e97","article-title":"Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother","volume":"109","author":"Dupuis-Girod","year":"2002","journal-title":"Pediatrics"},{"key":"10.1016\/j.bone.2017.01.012_bb0020","doi-asserted-by":"crossref","first-page":"4904","DOI":"10.1093\/hmg\/dds326","article-title":"Whole-exome sequencing identifies mutations in the nucleoside transporter gene SLC29A3 in dysosteosclerosis, a form of osteopetrosis","volume":"21","author":"Campeau","year":"2012","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2017.01.012_bb0025","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nm.1917","article-title":"A point mutation in KINDLIN3 ablates activation of three integrin subfamilies in humans","volume":"15","author":"Malinin","year":"2009","journal-title":"Nat. Med."},{"key":"10.1016\/j.bone.2017.01.012_bb0030","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/s00223-012-9631-4","article-title":"A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient","volume":"91","author":"Pangrazio","year":"2012","journal-title":"Calcif. Tissue Int."},{"key":"10.1016\/j.bone.2017.01.012_bb0035","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1016\/j.ejmg.2012.10.001","article-title":"Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: a case report and review of the literature","volume":"56","author":"Stark","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.bone.2017.01.012_bb0040","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1359\/jbmr.1999.14.5.834","article-title":"Association of intermediate osteopetrosis with poikiloderma","volume":"14","author":"Migliaccio","year":"1999","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0045","doi-asserted-by":"crossref","first-page":"307","DOI":"10.2350\/10-09-0909-CR.1","article-title":"Infantile osteopetrosis and juvenile xanthogranuloma presenting together in a newborn: a case report and literature review","volume":"14","author":"Almarzooqi","year":"2011","journal-title":"Pediatr. Dev. Pathol."},{"key":"10.1016\/j.bone.2017.01.012_bb0050","doi-asserted-by":"crossref","first-page":"228","DOI":"10.5409\/wjcp.v5.i2.228","article-title":"Diagnosis of osteopetrosis in bilateral congenital aural atresia: Turning point in treatment strategy","volume":"5","author":"Verma","year":"2016","journal-title":"World J. Clin. Pediatr."},{"key":"10.1016\/j.bone.2017.01.012_bb0055","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","author":"Posey","year":"2016","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bone.2017.01.012_bb0060","doi-asserted-by":"crossref","first-page":"1767","DOI":"10.1093\/hmg\/10.17.1767","article-title":"The mutational spectrum of human malignant autosomal recessive osteopetrosis","volume":"10","author":"Sobacchi","year":"2001","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.bone.2017.01.012_bb0065","doi-asserted-by":"crossref","first-page":"1740","DOI":"10.1359\/jbmr.2003.18.10.1740","article-title":"Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis","volume":"18","author":"Frattini","year":"2003","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0070","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1359\/jbmr.060403","article-title":"Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement","volume":"21","author":"Pangrazio","year":"2006","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0075","doi-asserted-by":"crossref","first-page":"1041","DOI":"10.1002\/jbmr.1849","article-title":"SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity","volume":"28","author":"Pangrazio","year":"2013","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0080","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1016\/j.bone.2013.11.014","article-title":"Exome sequencing identifies CTSK mutations in patients originally diagnosed as intermediate osteopetrosis","volume":"59","author":"Pangrazio","year":"2014","journal-title":"Bone"},{"key":"10.1016\/j.bone.2017.01.012_bb0085","doi-asserted-by":"crossref","first-page":"1814","DOI":"10.1002\/jbmr.2517","article-title":"Buried in the middle but guilty: Intronic mutations in the TCIRG1 Gene cause human autosomal recessive osteopetrosis","volume":"30","author":"Palagano","year":"2015","journal-title":"J. Bone Miner. Res."},{"key":"10.1016\/j.bone.2017.01.012_bb0090","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1136\/adc.80.3.273","article-title":"Importance of neurological assessment before bone marrow transplantation for osteopetrosis","volume":"80","author":"Abinun","year":"1999","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.bone.2017.01.012_bb0095","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1089\/thy.2012.0618","article-title":"Graves' immune reconstitution inflammatory syndrome in childhood","volume":"23","author":"Sinha","year":"2013","journal-title":"Thyroid"},{"key":"10.1016\/j.bone.2017.01.012_bb0100","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1242\/jcs.161190","article-title":"The kindlin family: functions, signaling properties and implications for human disease","volume":"129","author":"Rognoni","year":"2016","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.bone.2017.01.012_bb0105","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1083\/jcb.201007141","article-title":"Kindlin-3-mediated signaling from multiple integrin classes is required for osteoclast-mediated bone resorption","volume":"192","author":"Schmidt","year":"2011","journal-title":"J. Cell Biol."},{"key":"10.1016\/j.bone.2017.01.012_bb0110","doi-asserted-by":"crossref","first-page":"2591","DOI":"10.1182\/blood-2008-06-163162","article-title":"Kindlin-3: a new gene involved in the pathogenesis of LAD-III","volume":"112","author":"Mory","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.bone.2017.01.012_bb0115","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1038\/nm.1931","article-title":"Leukocyte adhesion deficiency-III is caused by mutations in KINDLIN3 affecting integrin activation","volume":"15","author":"Svensson","year":"2009","journal-title":"Nat. Med."},{"key":"10.1016\/j.bone.2017.01.012_bb0120","doi-asserted-by":"crossref","first-page":"4740","DOI":"10.1182\/blood-2008-10-182154","article-title":"LAD-1\/variant syndrome is caused by mutations in FERMT3","volume":"113","author":"Kuijpers","year":"2009","journal-title":"Blood"},{"key":"10.1016\/j.bone.2017.01.012_bb0125","doi-asserted-by":"crossref","first-page":"1053","DOI":"10.1160\/TH09-10-0689","article-title":"Novel integrin-dependent platelet malfunction in siblings with leukocyte adhesion deficiency-III (LAD-III) caused by a point mutation in FERMT3","volume":"103","author":"Jurk","year":"2010","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.bone.2017.01.012_bb0130","doi-asserted-by":"crossref","first-page":"4834","DOI":"10.1182\/blood-2009-08-238709","article-title":"Two mutations in the KINDLIN3 gene of a new leukocyte adhesion deficiency III patient reveal distinct effects on leukocyte function in vitro","volume":"115","author":"McDowall","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.bone.2017.01.012_bb0135","doi-asserted-by":"crossref","first-page":"1677","DOI":"10.1002\/pbc.25537","article-title":"A new mutation in the KINDLIN-3 gene ablates integrin-dependent leukocyte, platelet, and osteoclast function in a patient with leukocyte adhesion deficiency-III","volume":"62","author":"Crazzolara","year":"2015","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.bone.2017.01.012_bb0140","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1111\/pai.12485","article-title":"Adaptive immune defects in a patient with leukocyte adhesion deficiency type III with a novel mutation in FERMT3","volume":"27","author":"Suratannon","year":"2016","journal-title":"Pediatr. Allergy Immunol."}],"updated-by":[{"DOI":"10.1016\/j.bone.2022.116345","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2022,5,1]],"date-time":"2022-05-01T00:00:00Z","timestamp":1651363200000}}],"container-title":["Bone"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328217300121?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S8756328217300121?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,11]],"date-time":"2025-09-11T17:39:32Z","timestamp":1757612372000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S8756328217300121"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4]]},"references-count":28,"alternative-id":["S8756328217300121"],"URL":"https:\/\/doi.org\/10.1016\/j.bone.2017.01.012","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.bone.2022.116345","asserted-by":"object"}]},"ISSN":["8756-3282"],"issn-type":[{"value":"8756-3282","type":"print"}],"subject":[],"published":{"date-parts":[[2017,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hematopoietic stem cell transplantation corrects osteopetrosis in a child carrying a novel homozygous mutation in the FERMT3 gene","name":"articletitle","label":"Article Title"},{"value":"Bone","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bone.2017.01.012","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}