Articles with "dominant variants" as a keyword



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Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia

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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… read more here.

Keywords: dominant variants; microphthalmia; variants prr12; prr12 result ... See more keywords