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 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 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.
[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
Zanchelli F, Giudicissi A, Neri L, Sgarlato V, Bruno PF, Ruggeri M, Signorotti S, Apuzzo D, Notaro E, Buscaroli A.
G Ital Nefrol. 2024 Aug 26;41(4):2024-vol4. doi: 10.69097/41-04-2024-06.
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.
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.
Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu).
Chida A, Hasegawa Y, Segawa T, Yamabe D, Yan H, Chiba Y, Chiba H, Kinno H, Oda T, Takahashi Y, Nata K, Ishigaki Y.
Case Rep Endocrinol. 2025 Jan 23;2025:9514578. doi: 10.1155/crie/9514578. eCollection 2025.
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.
Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Cuny T, Romanet P, Goldsworthy M, Guérin C, Wilkin M, Roche P, Sebag F, van Summeren LE, Stevenson M, Howles SA, Deharo JC, Thakker RV, Taïeb D.
J Clin Endocrinol Metab. 2024 Jan 18;109(2):549-556. doi: 10.1210/clinem/dgad494.
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.
