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MeSH:(Eye Abnormalities/genetics*)

1.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

2.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

3.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

4.Anomalous Scleral Insertion of Superior Oblique in Axenfeld-Rieger Syndrome.

Sang Woo PARK ; Hwang Gyun KIM ; Hwan HEO ; Yeoung Geol PARK

Korean Journal of Ophthalmology 2009;23(1):62-64

5.A de novo GJA1 mutation identified by whole-exome sequencing in a patient with oculodentodigital dysplasia.

Hui ZENG ; Li XIE ; Mi TANG ; Yifeng YANG ; Zhiping TAN

Chinese Journal of Medical Genetics 2018;35(2):268-271

6.Clinical features and genetic analysis of two Chinese pedigrees affected with Joubert syndrome.

Dengzhi ZHAO ; Yan CHU ; Ke YANG ; Xiaodong HUO ; Xingxing LEI ; Yanli YANG ; Chaoyang ZHANG ; Hai XIAO ; Shixiu LIAO

Chinese Journal of Medical Genetics 2023;40(1):21-25

7.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

8.Genetic testing and prenatal diagnosis for two families affected with Joubert syndrome.

Zhouxian BAI ; Shuang HU ; Ning LIU ; Qinghua WU ; Xiangdong KONG

Chinese Journal of Medical Genetics 2020;37(5):509-513

9.Two Cases of Mirror-Image Eye Anomalies in Monozygotic Twins.

Wook Kyum KIM ; Seung Ah CHUNG ; Jong Bok LEE

Korean Journal of Ophthalmology 2010;24(5):314-317

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