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.
Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.
Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P.
J Clin Endocrinol Metab. 2016 May;101(5):2185-95. doi: 10.1210/jc.2015-3442. Epub 2016 Mar 10.
Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.
Hendy GN, Cole DE.
J Clin Endocrinol Metab. 2013 Dec;98(12):4666-9. doi: 10.1210/jc.2013-3616.
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.
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 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.
Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
Koca SB.
Turk J Pediatr. 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040.
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.
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.
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.
