{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:22:06Z","timestamp":1761718926214},"reference-count":9,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T00:00:00Z","timestamp":1589587200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T00:00:00Z","timestamp":1589587200000},"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":["Indian J Pediatr"],"published-print":{"date-parts":[[2021,1]]},"DOI":"10.1007\/s12098-020-03335-7","type":"journal-article","created":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T01:02:48Z","timestamp":1589590968000},"page":"61-63","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene \u2013 A Rare But Treatable Cause of Refractory Rickets"],"prefix":"10.1007","volume":"88","author":[{"given":"Sapna","family":"Sandal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronica","family":"Arora","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ishwar C.","family":"Verma","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2020,5,16]]},"reference":[{"key":"3335_CR1","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1055\/s-0038-1624577","volume":"7","author":"B Marik","year":"2018","unstructured":"Marik B, Bagga A, Sinha A, Hari P, Sharma A. Genetics of refractory rickets: identification of novel PHEX mutations in Indian patients and literature update. J Pediatr Genet. 2018;7:47\u201359.","journal-title":"J Pediatr Genet"},{"key":"3335_CR2","first-page":"91","volume":"6","author":"JF Divaker","year":"2018","unstructured":"Divaker JF, Narayana RM, Chander SG, Dhivya V, Balachandar V. Mutational analysis in hypophosphatemic rickets in Tamil Nadu \u2013 a rare case report. Sch J Med Case Rep. 2018;6:91\u20133.","journal-title":"Sch J Med Case Rep"},{"key":"3335_CR3","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1007\/s12098-019-02909-4","volume":"86","author":"J Bharati","year":"2019","unstructured":"Bharati J, Bhatia D, Khandelwal P, et al. C-terminal fibroblast growth factor-23 levels in non-nutritional hypophosphatemic rickets. Indian J Pediatr. 2019;86:555\u20137.","journal-title":"Indian J Pediatr"},{"key":"3335_CR4","doi-asserted-by":"publisher","first-page":"476","DOI":"10.1007\/s00223-019-00597-y","volume":"105","author":"C Liu","year":"2019","unstructured":"Liu C, Zhao Z, Wang O, et al. Earlier onset in autosomal dominant hypophosphatemia rickets of R179 than R176 mutations in fibroblast growth factor 23: report of 20 Chinese cases and review of the literature. Calcif Tissue Int. 2019;105:476\u201386.","journal-title":"Calcif Tissue Int."},{"key":"3335_CR5","doi-asserted-by":"publisher","first-page":"345","DOI":"10.1038\/81664","volume":"26","author":"K White","year":"2000","unstructured":"White K, Evans W, O'Riordan J, et al. Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23. Nat Genet. 2000;26:345\u20138.","journal-title":"Nat Genet"},{"key":"3335_CR6","first-page":"17","volume":"17","author":"A Gohil","year":"2019","unstructured":"Gohil A, Imel EA. FGF23 and associated disorders of phosphate wasting. Pediatr Endocrinol Rev. 2019;17:17\u201334.","journal-title":"Pediatr Endocrinol Rev"},{"key":"3335_CR7","doi-asserted-by":"publisher","first-page":"177","DOI":"10.4103\/2230-8210.93733","volume":"16","author":"VS Jagtap","year":"2012","unstructured":"Jagtap VS, Sarathi V, Lila AR, Bandgar T, Menon P, Shah NS. Hypophosphatemic rickets. Indian J Endocrinol Metab. 2012;16:177\u201382.","journal-title":"Indian J Endocrinol Metab"},{"key":"3335_CR8","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1038\/s41581-019-0189-5","volume":"16","author":"D Edmonston","year":"2020","unstructured":"Edmonston D, Wolf M. FGF23 at the crossroads of phosphate, iron economy and erythropoiesis. Nat Rev Nephrol. 2020;16:7\u201319.","journal-title":"Nat Rev Nephrol"},{"key":"3335_CR9","doi-asserted-by":"publisher","first-page":"435","DOI":"10.1038\/s41581-019-0152-5","volume":"15","author":"D Haffner","year":"2019","unstructured":"Haffner D, Emma F, Eastwood DM, et al. Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia. Nat Rev Nephrol. 2019;15:435\u201355.","journal-title":"Nat Rev Nephrol"}],"container-title":["The Indian Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-020-03335-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12098-020-03335-7\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12098-020-03335-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,5,15]],"date-time":"2021-05-15T23:25:47Z","timestamp":1621121147000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12098-020-03335-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,5,16]]},"references-count":9,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,1]]}},"alternative-id":["3335"],"URL":"https:\/\/doi.org\/10.1007\/s12098-020-03335-7","relation":{},"ISSN":["0019-5456","0973-7693"],"issn-type":[{"value":"0019-5456","type":"print"},{"value":"0973-7693","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,5,16]]},"assertion":[{"value":"20 March 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"1 May 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"16 May 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with Ethical Standards"}},{"value":"None.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of Interest"}}]}}