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.

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

  • {{article.zuoZhe_EN}}
Author information +
History +

HeighLight

{{article.keyPoints_en}}

Abstract

{{article.zhaiyao_en}}

Key words

QR code of this article

Cite this article

Download Citations
{{article.zuoZheEn_L}}. {{article.title_en}}[J]. {{journal.qiKanMingCheng_EN}}, 2018, 26(01): 56

References

References

{{article.reference}}

Funding

RIGHTS & PERMISSIONS

{{article.copyrightStatement_en}}
{{article.copyrightLicense_en}}

Accesses

Citation

Detail

Sections
Recommended

/