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MeSH:(Kidney Diseases, Cystic/genetics*)

1.Enlarged multicystic dysplastic kidneys with oligohydramnios during infancy caused by NPHP3 gene mutation.

Youwei BAO ; Xiaoli PAN ; Shuqing PAN ; Danyan ZHUANG ; Haibo LI ; Qitian MU ; Lulu YAN

Chinese Journal of Medical Genetics 2022;39(5):510-513

2.Cyst growth, polycystins, and primary cilia in autosomal dominant polycystic kidney disease.

Seung Hun LEE ; Stefan SOMLO

Kidney Research and Clinical Practice 2014;33(2):73-78

3.Clinical features and TTC21B genotype of a child with nephronophthisis type 12.

Shan JIAN ; Qi-Jiao WEI ; Yu-Tong LIU ; Wei WANG ; Yu ZHOU ; Mei-Ying QUAN ; Yan-Yan HE ; Hong-Mei SONG ; Min WEI

Chinese Journal of Contemporary Pediatrics 2019;21(6):580-584

4.Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis.

Jing ZHANG ; Lei SUN ; Xin Yu KUANG ; Yu Lin KANG ; Sheng HAO ; Dan FENG ; Xiao Ling NIU ; Wen Yan HUANG

Chinese Journal of Pediatrics 2022;60(8):820-824

5.Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations.

Xue ZHAO ; Li-Jun JIANG ; Zan-Hua RONG ; Zhi-Yan DOU ; Qing-Xiao SU ; Yu-Heng LIANG ; Xing-Jie QI

Chinese Journal of Contemporary Pediatrics 2023;25(8):831-836

6.Phenotypic analysis and variant identification of a fetus with Joubert syndrome 17.

Yan ZHAO ; Yanhui ZHAO ; Yuan LYU ; Hong PANG

Chinese Journal of Medical Genetics 2021;38(9):841-844

7.Phenotype and genotype analysis of a pedigree affected with Joubert syndrome due to variant of TMEM237 gene.

Shandan CUI ; Haijuan LOU ; Haijun YIN ; Fangfang GENG ; Ning LI ; Lirong MA

Chinese Journal of Medical Genetics 2021;38(12):1211-1215

9.Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing.

Huanhuan WANG ; Wenting JIANG ; Mengyao DAI ; Bing XIAO ; Yan XU ; Yu SUN ; Yu LIU ; Xiaomin YING ; Yunlong SUN ; Wei WEI ; Xing JI

Chinese Journal of Medical Genetics 2019;36(7):686-689

10.Clinical and genetic analyses of Joubert syndrome in children.

Guang-Yu ZHANG ; Yun-Xia ZHAO ; Hui-Ling ZHAO ; Guo-Hao TANG ; Peng-Liang WANG ; Deng-Na ZHU

Chinese Journal of Contemporary Pediatrics 2023;25(5):497-501

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