1. Lambert, Anne-Sophie, Grybek, Virginie, Francou, Bruno, Silve, Caroline, Linglart, Agnès. 2014. Analysis of AP2S1, a calcium-sensing receptor regulator, in familial and sporadic isolated hypoparathyroidism. In The Journal of clinical endocrinology and metabolism, 99, E469-73. doi:10.1210/jc.2013-3136. https://pubmed.ncbi.nlm.nih.gov/24423332/
2. Hovden, Silje, Rejnmark, Lars, Ladefoged, Søren A, Nissen, Peter H. 2016. AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia. In European journal of endocrinology, 176, 177-185. doi:. https://pubmed.ncbi.nlm.nih.gov/27913609/
3. Vahe, C, Benomar, K, Espiard, S, Odou, M F, Vantyghem, M C. 2017. Diseases associated with calcium-sensing receptor. In Orphanet journal of rare diseases, 12, 19. doi:10.1186/s13023-017-0570-z. https://pubmed.ncbi.nlm.nih.gov/28122587/
4. Hannan, Fadil M, Stevenson, Mark, Bayliss, Asha L, Wells, Sara, Thakker, Rajesh V. . Ap2s1 mutation causes hypercalcaemia in mice and impairs interaction between calcium-sensing receptor and adaptor protein-2. In Human molecular genetics, 30, 880-892. doi:10.1093/hmg/ddab076. https://pubmed.ncbi.nlm.nih.gov/33729479/
5. Hendy, Geoffrey N, Canaff, Lucie, Newfield, Ron S, Lee, Bonnie S P, Cole, David E C. 2014. Codon Arg15 mutations of the AP2S1 gene: common occurrence in familial hypocalciuric hypercalcemia cases negative for calcium-sensing receptor (CASR) mutations. In The Journal of clinical endocrinology and metabolism, 99, E1311-5. doi:10.1210/jc.2014-1120. https://pubmed.ncbi.nlm.nih.gov/24731014/
6. Szalat, Auryan, Shpitzen, Shoshana, Tsur, Anat, Leitersdorf, Eran, Meiner, Vardiella. 2017. Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia. In Endocrine, 55, 741-747. doi:10.1007/s12020-017-1241-5. https://pubmed.ncbi.nlm.nih.gov/28176280/
7. Chida, Ai, Hasegawa, Yutaka, Segawa, Toshie, Nata, Koji, Ishigaki, Yasushi. 2025. Successful Treatment With Evocalcet Against Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Identified by AP2S1 Gene Mutation (p.Arg15Leu). In Case reports in endocrinology, 2025, 9514578. doi:10.1155/crie/9514578. https://pubmed.ncbi.nlm.nih.gov/39949382/
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