[1] 中华医学会骨质疏松和骨矿盐疾病分会,中华医学会内分泌分会代谢性骨病学组.甲状旁腺功能减退症临床诊疗指南[J].中华骨质疏松和骨矿盐疾病杂志,2018,11(4):7-22. [2] MANUEL C, LEMOS,RAJESH V, THAKKER.GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.[J].Human mutation,2015,36(1):11-19. [3] TURAN S , Bastepe M . The GNAS Complex Locus and Human Diseases Associated with Loss-of-Function Mutations or Epimutations within This Imprinted Gene[J]. Hormone Research in Paediatrics, 2013, 80(4):229-241. [4] 朱燕.假性甲状旁腺功能减退症的临床与遗传学研究[D].北京:北京协和医学院,2011. [5] 郑瑞芝,赵志刚,汪艳芳, 等.假性甲状旁腺功能减退症Ⅰa型遗传学研究——附一家系报告[J].中华内分泌代谢杂志,2012,28(8):647-649. [6] 张小丽,孙良阁,刘爽,等.假性甲状旁腺功能减退症Ib型与GNAS1基因启动子甲基化的研究[J].中华内分泌代谢杂志,2010,26(11):973-975. [7] BASTEPE M. The GNAS locus and pseudohypoparathyroidism[J]. Advances in Experimental Medicine & Biology, 2008, 626(626):27-40. [8] MANTOVANI G , SANCTIS L D , BARBIERI A M , et al. Pseudohypoparathyroidism and GNAS Epigenetic Defects: Clinical Evaluation of Albright Hereditary Osteodystrophy and Molecular Analysis in 40 Patients[J]. The Journal of Clinical Endocrinology and Metabolism, 2010, 95(2):651-658. [9] MANTOVANI G,BASTEPE M,MONK D,et al. Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement[J]. Nat Rev Endocrinol,2018,14(8):476-500. [10] LEMOS M C , THAKKER R V . GNAS Mutations in Pseudohypoparathyroidism Type 1a and Related Disorders[J]. Human Mutation, 2015, 36(1):11-19. [11] 姚佳琦,任跃忠.假性甲状旁腺功能减退症的研究进展[J].国际内分泌代谢杂志,2007,27(5):321-324. [12] KOCH T, LEHNHARDT E , BOTTINGER H , et al. Sensorineural hearing loss owing to deficient G proteins in patients with pseudohypoparathyroidism: results of a multicentre study?[J]. European Journal of Clinical Investigation, 1990, 20(4):416-421. [13] 蓝薇,张帆,戴亚丽,等.假性甲状旁腺功能减退症Ⅰa型与GNAS1基因突变的研究——附一家系报告[J].罕少疾病杂志,2006,13(3):6-9. [14] LONG D N, MCGUIRE S, LEVINE M A, et al.Body mass index differences in pseudohypoparathyroidism type 1a versus pseudopseudohypoparathyroidism may implicate paternal imprinting of Galpha(s) in the development of human obesity[J].J Clin Endocrinol Metab, 2007,92(3):1073-1079. |