中华骨质疏松和骨矿盐疾病杂志2024，Vol.17Issue(2)：145-149,5.DOI:10.3969/j.issn.1674-2591.2024.02.007
婴儿进行性异位骨化症一例报告
A case report of progressive osseous heteroplasia in an infant
摘要
Abstract
This article reports a case of progressive osseous heteroplasia(POH)in a 6-month-old boy,who presented with ectopic ossification of the skin and subcutaneous tissue that developed slowly during the 4 months.An ab-dominal skin biopsy was undertaken which revealed calcareous deposition.Genetic testing revealed a heterozygous mutation in the GNAS gene,which is a frameshift mutation.关键词
进行性骨发育异常/异位骨化/GNAS基因Key words
progressive osseous heteroplasia/heterotopic ossification/GNAS gene分类
医药卫生引用本文复制引用
李政,别谊桥,王春雷..婴儿进行性异位骨化症一例报告[J].中华骨质疏松和骨矿盐疾病杂志,2024,17(2):145-149,5.基金项目
盐城市科学技术局基础研究面上项目(YCBK2023032) （YCBK2023032）
