
六个Lowe综合征家系七例患儿的临床特征与OCRL1基因突变
张晓滢, 孙良忠, 刘婷, 李敏, 林宏容, 岳智慧, 陈华木, 胡妙月
六个Lowe综合征家系七例患儿的临床特征与OCRL1基因突变
Clinical features of Lowe syndrome and OCRL1 mutations in seven cases from six families
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