PublisherDOIYearVolumeIssuePageTitleAuthor(s)Link
Korean Journal of Pediatrics10.3345/kjp.2016.59.11.s1201659Suppl 1S1A nonsensePAX6mutation in a family with congenital aniridiaKyoung Hee Han, Hye Jin Lee, Il-Soo Ha, Hee Gyung Kang, Hae Il Cheonghttps://synapse.koreamed.org/pdf/10.3345/kjp.2016.59.11.S1, https://synapse.koreamed.org/DOIx.php?id=10.3345/kjp.2016.59.11.S1, http://kjp.or.kr/upload/pdf/kjped-59-S1.pdf
Clinical Genetics10.1034/j.1399-0004.2001.600210.x2001602151-154PAX6mutation in a family with aniridia, congenital ptosis, and mental retardationA Malandrini, F Mari, S Palmeri, S Gambelli, G Berti, M Bruttini, AM Bardelli, K Williamson, V Van Heyningen, A Renierihttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1399-0004.2001.600210.x, https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1034%2Fj.1399-0004.2001.600210.x, http://onlinelibrary.wiley.com/wol1/doi/10.1034/j.1399-0004.2001.600210.x/fullpdf
Molecular Genetics & Genomic Medicine10.1002/mgg3.1198202085Nonsense suppression induced readthrough of a novel PAX6 mutation in patient‚Äźderived cells of congenital aniridiaXiaoliang Liu, Yuanyuan Zhang, Bijun Zhang, Haiming Gao, Chuang Qiuhttps://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1198, https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.1198, https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1198
Frontiers in Medicine10.3389/fmed.2022.104258820229Novel clinical presentation and PAX6 mutation in families with congenital aniridiaRuru Guo, Xiaotian Zhang, Aihua Liu, Jian Ji, Wei Liuhttps://www.frontiersin.org/articles/10.3389/fmed.2022.1042588/full
Human Mutation10.1002/humu.13801101104199811S1S326-S326Trp156Ter mutation in the PAX6 gene in a family with aniridiaAmanda J. Churchill, Rashida Anwar, Adam P. Booth, Richard Axton, Alex F. Markhamhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.13801101104, https://onlinelibrary.wiley.com/doi/full/10.1002/humu.13801101104
Human Mutation10.1002/(sici)1098-1004(1999)14:3<272::aid-humu21>3.0.co;2-v1999143272-273Run-on mutation and three novel nonsense mutations identified in the PAX6 gene in patients with aniridiaLarry Baum, C.P. Pang, Dorothy S.P. Fan, Priscilla M.K. Poon, Y.F. Leung, John K.H. Chua, Dennis S.C. Lamhttps://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2F(SICI)1098-1004(1999)14:3%3C272::AID-HUMU21%3E3.0.CO;2-V, https://onlinelibrary.wiley.com/doi/full/10.1002/(SICI)1098-1004(1999)14:3%3C272::AID-HUMU21%3E3.0.CO;2-V
Genetic Testing and Molecular Biomarkers10.1089/gtmb.2018.03342019237495-500A Novel PAX6 Heterozygous Mutation Found in a Chinese Family with Congenital AniridiaYing Xiao, Xiangqin Liu, Chen Yang, Liping Liu, Xiaoxin Guo, Qi Wang, Bo Gonghttps://www.liebertpub.com/doi/full-xml/10.1089/gtmb.2018.0334, https://www.liebertpub.com/doi/pdf/10.1089/gtmb.2018.0334
Ophthalmic Research10.1159/000327593201147127-31Mutation Analysis of <i>PAX6</i> in a Chinese Family and a Patient with a Presumed Sporadic Case of Congenital AniridiaFei Luo, Linlin Zhou, Xu Ma, Yan He, Liuhe Zou, Ying Jie, Jing Liu, Zhiqiang Panhttps://www.karger.com/Article/Pdf/327593, https://www.karger.com/Article/Pdf/327593
10.21203/rs.3.rs-270762/v12021A Novel 4.25kb Deletion in PAX6 in A Chinese Han Family with Congenital Aniridia Combined with Cataract and NystagmusTianwei Qian, Chong Chen, Caihua Li, Qiaoyun Gong, Kun Liu, Gao Wang, Isabelle Schrauwen, Xun Xuhttps://www.researchsquare.com/article/rs-270762/v1, https://www.researchsquare.com/article/rs-270762/v1.html
Graefe's Archive for Clinical and Experimental Ophthalmology10.1007/s00417000012420002387552-558A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridiaS. Sonoda, Yasushi Isashiki, Yoshiaki Tabata, Katsuaki Kimura, Tomoko Kakiuchi, Norio Ohbahttp://link.springer.com/content/pdf/10.1007/s004170000124.pdf, http://link.springer.com/article/10.1007/s004170000124/fulltext.html, http://link.springer.com/content/pdf/10.1007/s004170000124