{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T13:06:40Z","timestamp":1777727200564,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,3,1]],"date-time":"2026-03-01T00:00:00Z","timestamp":1772323200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82272993"],"award-info":[{"award-number":["82272993"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Int Med Res"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:p>\n                    Familial hypocalciuric hypercalcemia is an autosomal dominant genetic disorder characterized by mild to moderate hypercalcemia, mild hypermagnesemia, and normal or inappropriately elevated parathyroid hormone levels. Familial hypocalciuric hypercalcemia 1 is the most prevalent form of familial hypocalciuric hypercalcemia and is typically caused by heterozygous loss-of-function mutations in the calcium-sensing receptor (CaSR) gene. Homozygous\n                    <jats:italic toggle=\"yes\">CaSR<\/jats:italic>\n                    mutations are more commonly associated with neonatal severe primary hyperparathyroidism. We report the case of a female patient in her early 40s harboring a novel homozygous frameshift mutation in the CaSR gene (c.2603_2604insTT), resulting in familial hypocalciuric hypercalcemia 1. The patient presented with persistent hypocalciuria, hypercalcemia, and primary hyperparathyroidism, along with a family history of consanguinity. This case highlights the phenotypic variability associated with\n                    <jats:italic toggle=\"yes\">CaSR<\/jats:italic>\n                    mutations and broadens the clinical spectrum of homozygous\n                    <jats:italic toggle=\"yes\">CaSR<\/jats:italic>\n                    -related disorders. Increased clinical awareness of atypical genetic presentations is essential to avoid misdiagnosis and to ensure appropriate management of patients with familial disorders of calcium homeostasis.\n                  <\/jats:p>","DOI":"10.1177\/03000605261429307","type":"journal-article","created":{"date-parts":[[2026,3,19]],"date-time":"2026-03-19T08:03:23Z","timestamp":1773907403000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel homozygous inactivating mutation of the calcium-sensing receptor causing familial hypocalciuric hypercalcemia complicated with primary hyperparathyroidism due to parathyroid adenoma: A case report"],"prefix":"10.1177","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-7063-6107","authenticated-orcid":false,"given":"Xiaoran","family":"Tao","sequence":"first","affiliation":[{"name":"The First Hospital of Jilin University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengsha","family":"Yin","sequence":"additional","affiliation":[{"name":"The First Hospital of Jilin University"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaokun","family":"Gang","sequence":"additional","affiliation":[{"name":"The First Hospital of Jilin University"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,3,19]]},"reference":[{"key":"e_1_3_9_2_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1300253"},{"key":"e_1_3_9_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2013.04.007"},{"key":"e_1_3_9_4_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2015-3442"},{"key":"e_1_3_9_5_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds105"},{"key":"e_1_3_9_6_2","doi-asserted-by":"publisher","DOI":"10.1152\/ajpheart.00179.2001"},{"key":"e_1_3_9_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/head.12246"},{"key":"e_1_3_9_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1999.00729.x"},{"key":"e_1_3_9_9_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2008-2484"},{"key":"e_1_3_9_10_2","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2013-3593"},{"key":"e_1_3_9_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s40618-017-0710-2"},{"key":"e_1_3_9_12_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0000000000021940"},{"key":"e_1_3_9_13_2","doi-asserted-by":"publisher","DOI":"10.1097\/CM9.0000000000001568"},{"key":"e_1_3_9_14_2","doi-asserted-by":"publisher","DOI":"10.24953\/turkjped.2022.1040"},{"key":"e_1_3_9_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2013.02.006"},{"key":"e_1_3_9_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.berh.2007.11.006"},{"key":"e_1_3_9_17_2","doi-asserted-by":"publisher","DOI":"10.7554\/eLife.13662"},{"key":"e_1_3_9_18_2","doi-asserted-by":"publisher","DOI":"10.1210\/me.2009-0041"},{"key":"e_1_3_9_19_2","doi-asserted-by":"publisher","DOI":"10.1210\/en.2012-1449"},{"key":"e_1_3_9_20_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneph.2016.59"},{"key":"e_1_3_9_21_2","doi-asserted-by":"publisher","DOI":"10.4158\/EP12284.RA"},{"key":"e_1_3_9_22_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2008.03259.x"},{"key":"e_1_3_9_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.beem.2013.05.010"},{"key":"e_1_3_9_24_2","doi-asserted-by":"publisher","DOI":"10.1038\/s42255-020-0175-z"},{"key":"e_1_3_9_25_2","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.5.8492"},{"key":"e_1_3_9_26_2","doi-asserted-by":"publisher","DOI":"10.1002\/9781118453926.ch69"},{"key":"e_1_3_9_27_2","doi-asserted-by":"publisher","DOI":"10.1530\/JME-16-0124"},{"key":"e_1_3_9_28_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-14-0877"},{"key":"e_1_3_9_29_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMc1511646"},{"key":"e_1_3_9_30_2","doi-asserted-by":"publisher","DOI":"10.1530\/EJE-15-1028"},{"key":"e_1_3_9_31_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M115.696401"},{"key":"e_1_3_9_32_2","doi-asserted-by":"publisher","DOI":"10.3389\/fendo.2021.743517"}],"container-title":["Journal 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