22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS.
Nat Rev Dis Primers. 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71.
Congenital hypoparathyroidism.
Laron Z.
Isr J Med Sci. 1995 May;31(5):326-7.
Congenital hypoparathyroidism encephalopathy in a 34-year-old man.
Wang XJ, Qiu X.
Asian J Surg. 2023 Nov;46(11):4787-4788. doi: 10.1016/j.asjsur.2023.05.093. Epub 2023 Jun 2.
Hypoparathyroidism.
Al-Azem H, Khan AA.
Best Pract Res Clin Endocrinol Metab. 2012 Aug;26(4):517-22. doi: 10.1016/j.beem.2012.01.004. Epub 2012 May 31.
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG.
Heart Fail Clin. 2022 Jan;18(1):155-164. doi: 10.1016/j.hfc.2021.07.009. Epub 2021 Oct 25.
DiGeorge syndrome: consider the diagnosis.
Altshuler E, Saidi A, Budd J.
BMJ Case Rep. 2022 Feb 2;15(2):e245164. doi: 10.1136/bcr-2021-245164.
Congenital neuroblastoma in a neonate with hypoparathyroidism-retardation-dysmorphism syndrome.
Golan-Tripto I, Ling E, Hershkovitz E, Fruchtman Y, Hazan G.
Clin Dysmorphol. 2020 Jan;29(1):46-48. doi: 10.1097/MCD.0000000000000286.
Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.
Gild ML, Bullock M, Luxford C, Field M, Clifton-Bligh RJ.
J Clin Endocrinol Metab. 2020 Jul 1;105(7):dgaa279. doi: 10.1210/clinem/dgaa279.
"Transient" congenital hypoparathyroidism.
Cruz ML, Mimouni F, Tsang RC.
J Pediatr. 1992 Feb;120(2 Pt 1):332. doi: 10.1016/s0022-3476(05)80462-7.
The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.
Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV.
Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0.
