Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R.
J Pediatr. 2023 Jun;257:113367. doi: 10.1016/j.jpeds.2023.02.013. Epub 2023 Mar 2.
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Hendy GN, Cole DE.
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Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
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J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10.
Misleading localization by (18)F-fluorocholine PET/CT in familial hypocalciuric hypercalcemia type-3: a case report.
Mukhtar NN, Abouzied MEM, Alqahtani MH, Hammami MM.
BMC Endocr Disord. 2021 Jan 26;21(1):20. doi: 10.1186/s12902-021-00683-z.
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center.
Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7.
Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.
Zahedi M, Hizomi Arani R, Rafati M, Amouzegar A, Hadaegh F.
BMC Endocr Disord. 2021 Nov 4;21(1):220. doi: 10.1186/s12902-021-00881-9.
Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation.
Kerut S, Kovvuru KR, Yanes-Cardozo L, Garla VV.
BMJ Case Rep. 2020 Nov 9;13(11):e236631. doi: 10.1136/bcr-2020-236631.
Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.
Goldsweig B, Turk Yilmaz RS, Ravindranath Waikar A, Brownstein C, Carpenter TO.
J Bone Miner Res. 2024 Sep 26;39(10):1406-1411. doi: 10.1093/jbmr/zjae137.
Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3.
Nesbit MA, Hannan FM, Howles SA, Reed AA, Cranston T, Thakker CE, Gregory L, Rimmer AJ, Rust N, Graham U, Morrison PJ, Hunter SJ, Whyte MP, McVean G, Buck D, Thakker RV.
Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
He T, Li X, Li G, Wang W, Fu H, Gao Z, Liu X.
Front Endocrinol (Lausanne). 2025 Feb 25;16:1503128. doi: 10.3389/fendo.2025.1503128. eCollection 2025.
