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Items: 3

1.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis
Sek-Shir Cheong, Lisa Hentschel, Alice E. Davidson, Dianne Gerrelli, Rebecca Davie, Roberta Rizzo, Nikolas Pontikos, Vincent Plagnol, Anthony T. Moore, Jane C. Sowden, Michel Michaelides, Martin Snead, Stephen J. Tuft, Alison J. Hardcastle
Am J Hum Genet. 2016 Dec 1; 99(6): 1338–1352. Published online 2016 Nov 10. doi: 10.1016/j.ajhg.2016.09.022
PMCID:
PMC5142107
AbstractArticlePDF–3.4M
2.
Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3
Kim M. Summers, Stephen J. Withers, Glen A. Gole, Sara Piras, Peter J. Taylor
Mol Vis. 2008; 14: 2010–2015. Published online 2008 Nov 5.
PMCID:
PMC2579936
AbstractArticlePDF–15M
3.
Anterior segment mesenchymal dysgenesis: Probable linkage to the MNS blood group on chromosome 4
Robert E. Ferrell, Helen M. Hittner, Frank L. Kretzer, James H. Antoszyk
Am J Hum Genet. 1982 Mar; 34(2): 245–249.
PMCID:
PMC1685280
SummaryPage BrowsePDF–359K

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