Joubert syndrome with compound heterozygous mutations of RPGRIP1L gene: a case report

Zhang Xiaoying, Yue Zhihui, Wang Sijin, Sun Liangzhong

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Chinese Journal of Nephrology
Chinese Journal of Nephrology ›› 2025, Vol. 41 ›› Issue (10) : 768-771. DOI: 10.3760/cma.j.cn441217-20240906-00909
Case Report

Joubert syndrome with compound heterozygous mutations of RPGRIP1L gene: a case report

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{{article.zuoZheEn_L}}. {{article.title_en}}[J]. {{journal.qiKanMingCheng_EN}}, 2025, 41(10): 768-771. DOI: 10.3760/cma.j.cn441217-20240906-00909.

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