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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Syndrome and PRDM5[original query]
Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.
Human molecular genetics 2014 Oct 23 (20): 5527-35.
Lechner Judith, Porter Louise F, Rice Aine, Vitart Veronique, Armstrong David J, Schorderet Daniel F, Munier Francis L, Wright Alan F, Inglehearn Chris F, Black Graeme C, Simpson David A, Manson Forbes, Willoughby Colin
Mutation Survey of Candidate Genes and Genotype-Phenotype Analysis in 20 Southeastern Chinese Patients with Axenfeld-Rieger Syndrome.
Current eye research 2018 6 43 (11): 1334-1341.
Wang Xun, Liu Xing, Huang Liqin, Fang Shaohua, Jia Xiaoyun, Xiao Xueshan, Li Shiqiang, Guo Xiangmi
Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations.
Cornea 2019 5 38 (8): 1033-1039.
Zhang Wenlin, Margines J Ben, Jacobs Deborah S, Rabinowitz Yaron S, Hanser Evelyn Maryam, Chauhan Tulika, Chung Doug, Bykhovskaya Yelena, Gaster Ronald N, Aldave Anthony
Genotype-phenotype association of PITX2 and FOXC1 in Axenfeld-Rieger syndrome.
Experimental eye research 2022 11 226 109307.
Zhou Lin, Wang Xiaoli, An Jingqi, Zhang Yao, He Mengxia, Tang
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