努南综合征
巨细胞
PTPN11型
病变
下颌骨(节肢动物口器)
医学
病理
突变
解剖
生物
基因
遗传学
内科学
植物
属
克拉斯
作者
Bridget Sinnott,Maya Patel
出处
期刊:Case Reports
[BMJ]
日期:2018-05-30
卷期号:: bcr-224115
被引量:12
标识
DOI:10.1136/bcr-2017-224115
摘要
This is a case of a 20-year-old woman who presented with a left jaw mass which was resected and found to be a giant cell granuloma of the mandible. Her history and physical examination were suggestive for Noonan syndrome which was confirmed with genetic testing and the finding of a PTPN11 gene mutation which has rarely been associated with giant cell lesions of the jaw. Given her particular genetic mutation and the presence of a giant cell lesion, we present a case of Noonan-like/multiple giant cell lesion syndrome.
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