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GNAS1基因新发突变致婴儿进行性骨发育异常一例 被引量：2

Progressive osseous heteroplasia in an infant induced by a new mutation in the GNAS1 gene
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摘要 患儿男,8个月,4个月时全身陆续多发结节及暗红褐色萎缩斑。患儿足月顺产,既往体健,无局部外伤史,母乳喂养,父母非近亲结婚,其母无异常孕产史,家族成员中无类似病史。
作者 林杨杨 宫泽琨 赵丽 李钦峰 Lin Yangyang;Gong Zekun;Zhao Li;Li Qinfeng(Department of Dermatology, Tianjin Children′s Hospital, Tianjin 300134, China;Department of Pathology, Tianjin Children′s Hospital, Tianjin 300134, China)
机构地区 天津市儿童医院皮肤科 天津市儿童医院病理科
出处 《中华皮肤科杂志》 CAS CSCD 北大核心 2019年第7期500-501,共2页 Chinese Journal of Dermatology
关键词 骨发育异常 进行性 婴儿 突变 基因 异常孕产史 多发结节 足月顺产
分类号 R751 [医药卫生—皮肤病学与性病学]
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  • 1Kaplan FS, Craver R, MacEwen GD, et al. Progressive osseous heteroplasia: a distinct developmental disorder of heterotopic ossification. Two new case reports and follow-up of three previously reported cases. J Bone Joint Surg Am, 1994,76:425-436.
  • 2Kaplan S,Eileen MS, Rachel BW,eds. What is POH? Progressive osseous heteroplasia a guidebook for families. USA: Progressive Osseous Heteroplasia Association, Indian Head Park, Illinois, 2008:1-10.
  • 3Urtizberea JA, Testart H, Cartault F, et al. Progressive osseous heteroplasia. Report of a family. J Bone Joint Surg Br, 1998,80: 768-771.
  • 4Shore EM, Ahn J, Jan de Beur S, et al. Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia. N Engl J Med,2002 ,346 :99-106.
  • 5Aynaci O, Mujgan Aynaci F, Cobanbglu U, et al. Progressive osseous heteroplasia. A case report and review of the literature. J Pediatr Orthop B ,2002,11:339-342.
  • 6Faust RA, Shore EM, Stevens CE, et al. Progressive osseous heteroplasia in the face of a child. Am J Med Genet A, 2003, 118A:71-75.
  • 7Groppe JC, Shore EM, Kaplan FS. Functional modeling of the ACVR1 (R206H) mutation in FOP. Clin Orthop Relat Res, 2007,462:87-92.
  • 8Shen Q, Little SC, Xu M, et al. The fibrodysplasia ossificans progressiva R206H ACVR1 mutation activates BMP-independent chondrogenesis and zebrafish embryo ventralization. J Clin Invest, 2009,119 : 3462-3472.
  • 9Juppner H. The genetic basis of progressive osseous heteroplasia. N Engl J Med ,2002,346 : 128-130.
  • 10Adegbite NS, Xu M, Kaplan FS, et al. Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification. Am J Med Genet A, 2008,146A : 1788-1796.

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中华皮肤科杂志
2019年 第7期

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