疑似变形综合征患者的c.3140A>G突变：病例报告
c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report.
作者信息
Valentini Virginia, Zelli Veronica, Rizzolo Piera, Silvestri Valentina, Alimandi Maurizio, D'Aloia Maria Michela, Giustini Sandra, Calvieri Stefano, Richetta Antonio Giovanni, Monteleone Giovanni, Ottini Laura
机构信息
Department of Molecular Medicine Sapienza University of Rome Rome Italy.
Department of Clinical and Molecular Medicine Sapienza University of Rome Rome Italy.
出版信息
Clin Case Rep. 2018 Jun 2;6(7):1358-1363. doi: 10.1002/ccr3.1546. eCollection 2018 Jul.
We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with mutation. NGS analysis detected mutation in the patient's affected tissue allowing for PROS (PIK3CA-related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.
我们报告了一名疑似患有变形杆菌综合征的患者，这是一种与突变相关的过度生长疾病。二代测序（NGS）分析在患者受影响的组织中检测到突变，从而得以诊断为PROS（PIK3CA相关过度生长谱系）。过度生长疾病中重叠的临床特征凸显了分子检测对于正确诊断的重要性。
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