{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:59:45Z","timestamp":1791896385050,"version":"4.3.4"},"reference-count":8,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T00:00:00Z","timestamp":1618012800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["(U24 HG008956)"],"award-info":[{"award-number":["(U24 HG008956)"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000051","name":"National Human Genome Research Institute","doi-asserted-by":"publisher","award":["UM1HG006504"],"award-info":[{"award-number":["UM1HG006504"]}],"id":[{"id":"10.13039\/100000051","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2021,7]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Dysosteosclerosis is a group of sclerosing bone dysplasia characterized by short stature, increased bone fragility, osteosclerosis, and platyspondyly. It is a genetically heterogeneous disorder caused by biallelic mutations in the\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    ,\n                    <jats:italic>TNFRSF11A<\/jats:italic>\n                    ,\n                    <jats:italic>TCIRG1<\/jats:italic>\n                    , and\n                    <jats:italic>CSF1R<\/jats:italic>\n                    genes. To date, four dysosteosclerosis patients with\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    mutations have been reported. Here, we report biallelic\n                    <jats:italic>SLC29A3<\/jats:italic>\n                    (c.303_320dupCTACTTTGAGAGCTACCT) variant in a three\u2010year\u2010old girl. She had large anterior fontanelle, fracture history, short stature, camptodactyly, elbow contracture, and melanocytic nevus. Initial skeletal radiographs revealed platyspondyly, dense vertebral endplates (sandwich appearance of the vertebral bodies), diffuse sclerosis of the peripheral side of the pelvic bones, sclerosis of metaphysis and diaphysis of the long bones, metaphyseal widening, and diaphyseal cortical thickening. Mild sclerosis was also present in the skull base, maxilla, rib, scapula, and phalanges. Notably, we observed that sandwich vertebrae appearance significantly resolved and sclerosis of ribs, scapula, pelvis, and long bone metaphysis regressed over a 2.5\u2010year period. However, platyspondyly, metaphyseal widening, and diaphyseal cortical thickening persisted. In conclusion, this study demonstrates spontaneous resolution of osteosclerosis, which was not described previously in patients with dysosteosclerosis.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.62198","type":"journal-article","created":{"date-parts":[[2021,4,10]],"date-time":"2021-04-10T04:26:50Z","timestamp":1618028810000},"page":"2271-2277","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Resolution of sclerotic lesions of dysosteosclerosis due to biallelic\n                    <i>SLC29A3<\/i>\n                    variant in a Turkish girl"],"prefix":"10.1002","volume":"185","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0495-6152","authenticated-orcid":false,"given":"Dilek","family":"Uluda\u011f Alkaya","sequence":"first","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpasa Medical School Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evren","family":"Akp\u0131nar","sequence":"additional","affiliation":[{"name":"Baltalimani Bone Diseases Training and Research Center, Departments of Orthopedics and Traumatology University of Health Sciences Istanbul  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaya","family":"Bilguvar","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Program on Neurogenetics, Yale Medical School Yale University  New Haven Connecticut USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9620-5021","authenticated-orcid":false,"given":"Beyhan","family":"T\u00fcys\u00fcz","sequence":"additional","affiliation":[{"name":"Department of Pediatric Genetics, Cerrahpasa Medical School Istanbul University\u2010Cerrahpasa  Istanbul Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2021,4,10]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds326"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.03.004"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-018-0447-6"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bone.2018.12.002"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-019-10925-3"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.131"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-00891-w"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-020-00831-8"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62198","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.62198","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.62198","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,25]],"date-time":"2023-08-25T04:43:39Z","timestamp":1692938619000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.62198"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,10]]},"references-count":8,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["10.1002\/ajmg.a.62198"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.62198","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,10]]},"assertion":[{"value":"2020-12-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-19","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-04-10","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}