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Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma.
Lahola-Chomiak AA, Footz T, Nguyen-Phuoc K, Neil GJ, Fan B, Allen KF, Greenfield DS, Parrish RK, Linkroum K, Pasquale LR, Leonhardt RM, Ritch R, Javadiyan S, Craig JE, Allison WT, Lehmann OJ, Walter MA, Wiggs JL. Lahola-Chomiak AA, et al. Among authors: allison wt. Hum Mol Genet. 2019 Apr 15;28(8):1298-1311. doi: 10.1093/hmg/ddy429. Hum Mol Genet. 2019. PMID: 30561643 Free PMC article.
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ye M, Berry-Wynne KM, Asai-Coakwell M, Sundaresan P, Footz T, French CR, Abitbol M, Fleisch VC, Corbett N, Allison WT, Drummond G, Walter MA, Underhill TM, Waskiewicz AJ, Lehmann OJ. Ye M, et al. Among authors: allison wt. Hum Mol Genet. 2010 Jan 15;19(2):287-98. doi: 10.1093/hmg/ddp496. Epub 2009 Oct 28. Hum Mol Genet. 2010. PMID: 19864492
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauvé Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ. Asai-Coakwell M, et al. Among authors: allison wt. Hum Mol Genet. 2013 Apr 1;22(7):1432-42. doi: 10.1093/hmg/dds560. Epub 2013 Jan 9. Hum Mol Genet. 2013. PMID: 23307924
120 results