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全外显子组测序发现CSPP1所致Joubert综合征1例
罗敏娜1刘志翠2曹宗富1孙殿荣2马斯禹1,3高华方1马旭1李玉堂2
Identification of one patient with Joubert syndrome because of CSPP1 mutations by wholeexome sequencing
LUO Minna1,LIU Zhicui2,CAO Zongfu1,SUN Dianrong2,MA Siyu1,3, GAO Huafang1,MA Xu1,LI Yutang2
中国计划生育学杂志 . 2018, (01): 56 .