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遗传病CNV Seq+WES明确多发丛状神经纤维瘤病因,检出最小9p21.3微缺失 ...
病理检查支持丛状神经纤维瘤(PNF)的典型特征(图1E)。体格检查及皮肤伍德灯检查未发现神经纤维瘤病1型(NF1)的其它临床指征(如咖啡牛奶斑、腋窝或腹股沟雀斑),眼科检查亦未发现虹膜色素痣(Lisch结节)。 图1 (A)病例家系图;(B)左小腿及足底近期 ...
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