本文报告1例存在鸟苷酸结合蛋白α活性刺激肽(guanine nucleotide binding protein alpha stimulating activity polypeptide,GNAS)基因突变(NM_016592.5;exon1/13;c.517G＞C)的患者,目前尚未有关于该位点突变的报道.结合临床、影像学表现、组织病理学检查和全外显子基因检测,诊断为多骨性骨纤维异常增殖症.
A Case of Polyostotic Fibrous Dysplasia with a New Missense Mutation in GNAS
We report a case of fibrous dysplasia with a new missense mutation in GN AS(NM_016592.5;Exon 1/13;c.517G＞C).Gene mutations in this site are not reported in fibrous dysplasia patients.Polyostotic fibrous dysplasia is diagnosed by the combination of imaging and clinical results,histopathological analysis,and the whole exon gene test.
polyostotic fibrous dysplasiaGN AS genegene mutation
万方数据
维普
