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\u51ef\u4e3d\u7684\u7236\u4eb2\u534e\u83b1\u58eb\u6628\u5929\u8868\u793a\uff0c\u5c3d\u7ba1\u5b69\u5b50\u7684\u75c5\u60c5\u5728\u6076\u5316\uff0c\u4ed6\u4e0e\u59bb\u5b50\u90fd\u540c\u610f\u4e0d\u518d\u7ed9\u5b69\u5b50\u4f7f\u7528\u547c\u5438\u5668\uff0c\u800c\u662f\u8ba9\u5b69\u5b50\u201c\u8d70\u81ea\u5df1\u7684\u8def\u201d\u3002<\/p>\n
\u51ef\u4e3d\u60a3\u6709\u6770\u4f2f\u7279\u7efc\u5408\u75c7\uff08Joubert syndrome\uff09\uff0c\u5927\u8111\u548c\u8111\u5e72\u51fa\u73b0\u7578\u5f62\uff0c\u533b\u751f\u79f0\u7761\u89c9\u65f6\u4e0d\u4f7f\u7528\u547c\u5438\u5668\u5c31\u4f1a\u7a92\u606f\uff0c\u8fd9\u79cd\u75c5\u65e0\u6cd5\u6cbb\u7597\uff0c\u5b69\u5b50\u5c06\u5f88\u5feb\u6b7b\u4ea1\u3002\u51ef\u4e3d\u7684\u7236\u6bcd\u89c9\u5f97\u5c06\u5973\u513f\u7684\u5fc3\u810f\u732e\u7ed9\u53e6\u4e00\u540d\u60a3\u5fc3\u810f\u75c5\u7684\u5a74\u513f\u662f\u6700\u597d\u7684\u9009\u62e9\u3002\u4f46\u5728\u5468\u4e8c\u533b\u751f\u79fb\u9664\u547c\u5438\u673a\u540e\uff0c\u51ef\u4e3d\u4e00\u76f4\u5728\u6311\u6218\u533b\u751f\u7684\u770b\u6cd5\uff0c\u987d\u5f3a\u5730\u81ea\u4e3b\u547c\u5438\u3002 <\/p>\n
\u987d\u5f3a\u5973\u5a74\u7ee7\u7eed\u81ea\u5df1\u547c\u5438<\/strong><\/p>\n \u661f\u62a5\u4e13\u8baf\/\u8eab\u60a3\u7edd\u75c7\u7684\u4e24\u4e2a\u6708\u5927\u795e\u5947\u5973\u5a74\u51ef\u8389(Kaylee)\u5468\u4e09\u7eed\u5199\u5947\u8ff9\uff0c\u5728\u62d4\u6389\u547c\u5438\u5668\u540e\u5df2\u8fde\u7eed\u7b2c\u4e8c\u5929\u81ea\u5df1\u547c\u5438\u3002\u5973\u5a74\u7684\u7236\u6bcd\u5728\u591a\u4f26\u591a\u75c5\u7ae5\u533b\u9662(Hospital for Sick Children)\u5ea6\u8fc7\u4e86\u53c8\u4e00\u4e2a\u4e0d\u7720\u4e4b\u591c\uff0c\u4f46\u4ed6\u4eec\u8868\u793a\uff0c\u5b88\u591c\u7684\u714e\u71ac\u4e0d\u7b97\u4ec0\u4e48\uff0c\u4f46\u5916\u754c\u63e3\u6d4b\u4ed6\u4eec\u51c6\u5907\u6350\u732e\u5973\u513f\u5668\u5b98\u4e4b\u52a8\u673a\u53cd\u800c\u66f4\u96be\u53d7\u3002<\/p>\n \u51ef\u8389\u7684\u7236\u4eb2\uff0c34\u5c81\u7684\u534e\u83b1\u58eb(Jason Wallace)\uff0c\u548c20\u5c81\u7684\u6bcd\u4eb2\u7ef4\u6cf0\u8389(Cystal Vitelli)\u5468\u56db\u8eab\u5fc3\u4ff1\u75b2\u5730\u9762\u5bf9\u5a92\u4f53\u3002\u5f53\u88ab\u95ee\u53ca\u5bf9\u5a92\u4f53\u5bf9\u4ed6\u4eec\u78e8\u96be\u7ecf\u5386\u7684\u63cf\u7ed8\u6709\u4f55\u53cd\u5e94\u65f6\uff0c\u534e\u83b1\u58eb\u9732\u51fa\u660e\u663e\u7684\u4e0d\u60a6\u3002\u4ed6\u8bf4\uff0c\u5728\u4ed6\u4eec\u7ecf\u5386\u5982\u6b64\u63ea\u5fc3\u4e8b\u4ef6\u65f6\uff0c\u516c\u4f17\u597d\u50cf\u8ba4\u5b9a\u4ed6\u4eec\u505a\u9519\u4e86\u4ec0\u4e48\u4f3c\u7684\uff0c\u8fd9\u4ee4\u4ed6\u4eec\u66f4\u52a0\u96be\u53d7\u3002\u4ed6\u8868\u793a\uff0c\u4ed6\u4eec\u5bf9\u516c\u4f17\u8ba4\u4e3a\u4ed6\u4eec\u60f3\u8bbe\u6cd5\u8ba9\u5b69\u5b50\u6b7b\u53bb\u7684\u60f3\u6cd5\u611f\u5230\u6cae\u4e27\u548c\u6124\u6012\u3002\u4ed6\u8bf4\uff1a\u201c\u5982\u679c\u5927\u5bb6\u4e0d\u660e\u767d\u6211\u4eec\u7684\u5973\u513f\u5f97\u4e86\u7edd\u75c7\uff0c\u6709\u53ef\u80fd\u6027\u547d\u96be\u4fdd\uff0c\u800c\u5982\u679c\u6211\u4eec100%\u65e0\u6cd5\u6551\u6d3b\u6211\u4eec\u7684\u5973\u513f\uff0c\u5c31\u5e0c\u671b\u80fd\u6551\u6d3b\u53e6\u5916\u4e00\u4e2a\u5b69\u5b50\uff0c\u90a3\u4ed6\u4eec\u5c31\u5df2\u7ecf\u8bef\u5165\u6b67\u9014\uff0c\u9700\u8981\u597d\u597d\u60f3\u60f3\u4ed6\u4eec\u81ea\u5df1\u7684\u751f\u6d3b\u3002\u201d<\/p>\n \u5e0c\u671b\u51ef\u8389\u80fd\u56de\u5bb6<\/p>\n \u201c\u73b0\u5728\u662f\u770b\u51ef\u8389\u80fd\u5426\u987d\u5f3a\u6c42\u751f\uff0c\u4e0e\u7236\u6bcd\u4e00\u8d77\u56de\u5bb6\u7684\u65f6\u5019\u4e86\uff0c\u6211\u4eec\u4e5f\u5e0c\u671b\u4f1a\u51fa\u73b0\u8fd9\u4e2a\u5947\u8ff9\u3002\u201d<\/p>\n \u4ed6\u8868\u793a\uff0c\u4ed6\u4eec\u4ecd\u7136\u542c\u4ece\u533b\u751f\u7684\u5efa\u8bae\uff0c \u533b\u751f\u8fd8\u662f\u4e00\u518d\u544a\u8bc9\u4ed6\u4eec\u5b69\u5b50\u6027\u547d\u96be\u4fdd\u3002\u4ed6\u79f0\uff0c\u5982\u679c\u8fd9\u6837\uff0c\u6700\u597d\u7684\u7ed3\u679c\u4ecd\u662f\u5979\u6350\u51fa\u7684\u5fc3\u810f\u53ef\u4ee5\u4f7f\u53e6\u4e00\u4e2a\u5b69\u5b50\u7684\u751f\u547d\u83b7\u6551\u3002<\/p>\n 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\u534e\u83b1\u58eb\u548c\u7ef4\u6cf0\u8389\u5468\u56db\u4e0e\u4e00\u4e2a\u533b\u751f\u5c0f\u7ec4\u4f1a\u976245\u5206\u949f\uff0c\u5f97\u77e5\u4ed6\u4eec\u7684\u5973\u513f\u53ef\u80fd\u8fd8\u9700\u8981\u4f4f\u9662\u6570\u6708\uff0c\u201c\u56e0\u4e3a\u5979\u8fd8\u4e0d\u7a33\u5b9a\u201d\u3002<\/p>\n \u4ed6\u79f0\u4ed6\u548c\u7ef4\u6cf0\u8389\u5df2\u7ecf\u51b3\u5b9a\uff0c\u4ed6\u4eec\u201c\u4e0d\u8d5e\u6210\u7ed9\u5973\u513f\u63d0\u4f9b\u751f\u547d\u7ef4\u6301\u201d\u3002<\/p>\n","protected":false},"excerpt":{"rendered":" \u52a0\u901a\u793e\u591a\u4f26\u591a9\u65e5\u7535\/\u5904\u4e8e\u201c\u5fc3\u810f\u6350\u8d60\u5267\u201d\u4e2d\u5fc3\u7684\u4e8c\u6708\u5927\u5973\u5a74\u51ef\u4e3d\u7684\u7236\u6bcd\u8868\u793a\uff0c\u5c3d\u7ba1\u5973\u513f\u7684\u75c5\u60c5\u5728\u6076\u5316\uff0c\u4f46\u4ed6\u4eec\u4e0d\u4f1a\u518d\u7528\u547c\u5438\u5668\u6765\u5e2e\u52a9\u5973\u513f\u3002 \u51ef\u4e3d\u7684\u7236\u4eb2\u534e\u83b1\u58eb\u6628\u5929\u8868\u793a\uff0c\u5c3d\u7ba1\u5b69\u5b50\u7684\u75c5\u60c5\u5728\u6076\u5316\uff0c\u4ed6\u4e0e\u59bb\u5b50\u90fd\u540c\u610f\u4e0d\u518d\u7ed9\u5b69\u5b50\u4f7f\u7528\u547c\u5438\u5668\uff0c\u800c\u662f\u8ba9\u5b69\u5b50\u201c\u8d70\u81ea\u5df1\u7684\u8def\u201d\u3002 \u51ef\u4e3d\u60a3\u6709\u6770\u4f2f\u7279\u7efc\u5408\u75c7\uff08Joubert syndrome\uff09\uff0c\u5927\u8111…
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