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Published in 2020 at "Clinical Genetics"
DOI: 10.1111/cge.13897
Abstract: Complex microphthalmia is characterized by small eyes with additional abnormalities that may include anterior segment dysgenesis. While many genes are known, a genetic cause is identified in only 4–30% of microphthalmia, with the lowest rate…
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Keywords:
dominant variants;
microphthalmia;
variants prr12;
prr12 result ... See more keywords