努南综合征
PTPN11型
皮肤病科
医学
遗传学
突变
精神科
生物
基因
克拉斯
作者
H Liu,Xiao Han,Shi-Jye Chu,Wei Ma,Wanqiu Ding,Jianping Li,Yongmei Jiang
标识
DOI:10.1093/qjmed/hcae029
摘要
Learning points for cliniciansNoonan Syndrome with Multiple Lentigines denotes a unique subtype of Noonan Syndrome characterized by cutaneous manifestations.In addition to possessing mutations commonly linked to NS, patients may also exhibit mutations typical of cardiomyopathy.The combination of these mutations may enhance myocardial expression, leading to an accelerated onset of cardiac dysfunction.
科研通智能强力驱动
Strongly Powered by AbleSci AI