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autosomal dominant hyperparathyroidism相关文献:
Multiple endocrine neoplasia type 2: A review.
Mathiesen JS, Effraimidis G, Rossing M, Rasmussen ÅK, Hoejberg L, Bastholt L, Godballe C, Oturai P, Feldt-Rasmussen U.
Semin Cancer Biol. 2022 Feb;79:163-179. doi: 10.1016/j.semcancer.2021.03.035. Epub 2021 Apr 1.
PMID:33812987
Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
Greenberg LA.
Prim Care. 2024 Sep;51(3):483-494. doi: 10.1016/j.pop.2024.03.006. Epub 2024 May 23.
PMID:39067973
CLCN7-Related Osteopetrosis.
Sobacchi C, Villa A, Schulz A, Kornak U.
2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301306
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.
PMID:30443043
17q12 Recurrent Deletion Syndrome.
Mitchel MW, Moreno-De-Luca D, Myers SM, Levy RV, Turner S, Ledbetter DH, Martin CL.
2016 Dec 8 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:27929632
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE.
Hum Mutat. 2000 Oct;16(4):281-96. doi: 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A.
PMID:11013439
La néoplasie endocrinienne multiple de type 1 : mise au point après le congrès de l’ENETS 2019: Multiple Endocrine Neoplasia Type 1: Development after the ENETS 2019 Congress.
Vialon M, Desailloud R, Caron P.
Ann Endocrinol (Paris). 2019 Sep;80 Suppl 1:S19-S28. doi: 10.1016/S0003-4266(19)30113-1.
PMID:31606058
CDC73-Related Disorders.
Skefos CM, Waguespack SG, Perrier ND, Hu MI.
2008 Dec 31 [updated 2023 Sep 21]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301744
Non-Odontogenic Tumors of the Jaws.
Shaw SE, Chan CH.
2023 Jul 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:35015466
TCIRG1-Related Osteopetrosis.
Jodeh W, Alam I, Econs M.
2025 Aug 28. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:40875877
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