{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T12:45:16Z","timestamp":1791377116556,"version":"4.3.2"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"12","license":[{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T00:00:00Z","timestamp":1674518400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100009053","name":"The Wellcome Trust DBT India Alliance","doi-asserted-by":"publisher","award":["IA\/CRC\/20\/1\/600002"],"award-info":[{"award-number":["IA\/CRC\/20\/1\/600002"]}],"id":[{"id":"10.13039\/501100009053","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Manipal Academy of Higher Education, Manipal"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Indian J Pediatr"],"published-print":{"date-parts":[[2023,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Objective<\/jats:title>\n                <jats:p>To understand the phenotypic and genotypic spectrum of genetic forms of rickets in 10 families.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>Detailed clinical, radiographic, and biochemical evaluation of 10 families with phenotypes suggestive of a genetic cause of rickets was performed. Molecular testing using exome sequencing aided in the diagnosis of six different forms of known genetic causes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>Eleven disease-causing variants including five previously reported variants (<jats:italic>CYP27B1<\/jats:italic>:c.1319_1325dup, p.(Phe443Profs*24), <jats:italic>VDR<\/jats:italic>:c.1171C&gt;T, p.(Arg391Cys), <jats:italic>PHEX<\/jats:italic>: c.1586_1586+1del, <jats:italic>PHEX:<\/jats:italic> c.1482+5G&gt;C, <jats:italic>PHEX:<\/jats:italic> c.58C&gt;T, p.(Arg20*)) and six novel variants (<jats:italic>CYP27B1<\/jats:italic>:c.974C&gt;T, p.(Thr325Met), <jats:italic>CYP27B1:<\/jats:italic> c.1376G&gt;A, p.(Arg459His), <jats:italic>CYP2R1<\/jats:italic>: c.595C&gt;T, p.(Arg199*), <jats:italic>CYP2R1:<\/jats:italic>c.1330G&gt;C, p.(Gly444Arg),<jats:italic>SLC34A3<\/jats:italic>:c.1336-11_1336-1del, <jats:italic>SLC2A2<\/jats:italic>: c.589G&gt;C, p.(Val197Leu)) in the genes known to cause monogenic rickets were identified.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p>The authors hereby report a case series of individuals from India with a molecular diagnosis of rickets and provide the literature review which would help in enhancing the clinical and molecular profile for rapid and differential diagnosis of rickets.\n<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12098-022-04393-9","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T08:07:31Z","timestamp":1674547651000},"page":"1182-1190","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Exome Sequencing in Monogenic Forms of Rickets"],"prefix":"10.1007","volume":"90","author":[{"given":"Prince","family":"Jacob","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gandham SriLakshmi","family":"Bhavani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Prajna","family":"Udupa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zheng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sankar V.","family":"Hariharan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kishan","family":"Delampady","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashwin","family":"Dalal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nutan","family":"Kamath","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rathika D.","family":"Shenoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koushik","family":"Handattu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hitesh","family":"Shah","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,24]]},"reference":[{"key":"4393_CR1","doi-asserted-by":"crossref","unstructured":"Misra M, Pacaud D, Petryk A, Collett-Solberg PF, Kappy M; Drug and Therapeutics Committee of the Lawson Wilkins Pediatric Endocrine Society. 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