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The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

12 Feb 2020

Abstract excerpt

Nanophthalmos and posterior microphthalmos are ocular abnormalities in which both eyes are abnormally small, and typically associated with extreme hyperopia. We recruited 40 individuals from 13 kindreds with nanophthalmos or posterior microphthalmos, with 12 probands subjected to exome sequencing. Nine probands (69.2%) were assigned a genetic diagnosis, with variants in MYRF, TMEM98, MFRP, and PRSS56. Two of four...

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PMID: 32052405
DOI: 10.1111/cge.13722

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