{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,30]],"date-time":"2025-10-30T22:42:14Z","timestamp":1761864134413,"version":"3.41.2"},"reference-count":16,"publisher":"The Endocrine Society","issue":"6","license":[{"start":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T00:00:00Z","timestamp":1588032000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,6,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Osteopetrosis is a rare group of bone disorders characterized by defective osteoclast bone resorption causing high bone mineral density. A high bone mineral density in combination with defective skeletal mineralization results in a phenotype of osteopetrorickets. We present a rare presentation of infantile osteopetrorickets in an 8-week-old female who presented with failure to thrive, hypophosphatemia, anemia, and thrombocytopenia. A skeletal survey showed increased bone density with rachitic changes. She was found to have a homozygous T-cell immune regulator 1 (TCIRG1) pathogenic mutation consistent with osteopetrosis. This highlights the importance of a clinical suspicion of osteopetrosis with this symptom constellation.<\/jats:p>","DOI":"10.1210\/jendso\/bvaa044","type":"journal-article","created":{"date-parts":[[2020,4,28]],"date-time":"2020-04-28T18:55:59Z","timestamp":1588100159000},"source":"Crossref","is-referenced-by-count":4,"title":["Osteopetrorickets Presenting with Failure to Thrive and Hypophosphatemia"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4200-6190","authenticated-orcid":false,"given":"Jurhee","family":"Freese","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5491-0101","authenticated-orcid":false,"given":"Erin","family":"Greenup","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bhuvana","family":"Sunil","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0692-6624","authenticated-orcid":false,"given":"Ambika P","family":"Ashraf","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology and Metabolism, Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"80","published-online":{"date-parts":[[2020,4,28]]},"reference":[{"key":"2020062412234091300_CIT0001","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1186\/1750-1172-4-5","article-title":"Osteopetrosis","volume":"4","author":"Stark","year":"2009","journal-title":"Orphanet J Rare Dis."},{"issue":"4","key":"2020062412234091300_CIT0002","doi-asserted-by":"crossref","first-page":"982","DOI":"10.1002\/jbmr.2100","article-title":"CLCN7 and TCIRG1 mutations differentially affect bone matrix mineralization in osteopetrotic individuals","volume":"29","author":"Barvencik","year":"2014","journal-title":"J Bone Miner Res."},{"issue":"294","key":"2020062412234091300_CIT0003","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1097\/00003086-199309000-00005","article-title":"Osteopetrosis. 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