RPGRIP1L基因复合杂合突变朱伯特综合征1例
张晓滢, 岳智慧, 王思进, 孙良忠
Joubert syndrome with compound heterozygous mutations of RPGRIP1L gene: a case report
Zhang Xiaoying, Yue Zhihui, Wang Sijin, Sun Liangzhong
中华肾脏病杂志
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2025, (10): 768
-771
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DOI: 10.3760/cma.j.cn441217-20240906-00909
