Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Sign Up to like & getrecommendations! 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
An ontological foundation for ocular phenotypes and rare eye diseases
Sign Up to like & getrecommendations! Published in 2019 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-018-0980-6
Abstract: BackgroundThe optical accessibility of the eye and technological advances in ophthalmic diagnostics have put ophthalmology at the forefront of data-driven medicine. The focus of this study is rare eye disorders, a group of conditions whose… read more here.
Keywords: ontology; ophthalmology; disease; rare eye ... See more keywords