| ［1］ |
Elli FM, Mantovani G. Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases?［J］. Endocrine, 2021,72（3）:611⁃618. doi: 10.1007/s12020⁃020⁃02533⁃9.
|
| ［2］ |
林杨杨, 宫泽琨, 赵丽, 等. GNAS1基因新发突变致婴儿进行性骨发育异常一例［J］. 中华皮肤科杂志, 2019,52（7）:500⁃501. doi: 10.3760/cma.j.issn.0412⁃4030.2019.07.013.
|
| ［3］ |
Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva［J］. Nat Genet, 2006,38（5）:525⁃527. doi: 10.1038/ng1783.
|
| ［4］ |
Kaplan FS, Xu M, Glaser DL, et al. Early diagnosis of fibrodysplasia ossificans progressiva［J］. Pediatrics, 2008,121（5）:e1295⁃e1300. doi: 10.1542/peds.2007⁃1980.
|
| ［5］ |
Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia［J］. N Engl J Med, 2002,346（2）:99⁃106. doi: 10. 1056/NEJMoa011262.
|
| ［6］ |
Talsania N, Jolliffe V, O′Toole EA, et al. Platelike osteoma cutis［J］. J Am Acad Dermatol, 2011,64（3）:613⁃615. doi: 10.1016/j.jaad.2009.07.049.
|
| ［7］ |
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. doi: 10.1038/s41574⁃018⁃0042⁃0.
|
| ［8］ |
Bastepe M. GNAS mutations and heterotopic ossification［J］. Bone, 2018,109:80⁃85. doi: 10.1016/j.bone.2017.09.002.
|
