
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
Chinese Journal of Family Planning ›› 2018, Vol. 26 ›› Issue (01) : 56.
Identification of one patient with Joubert syndrome because of CSPP1 mutations by wholeexome sequencing
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