Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype–phenotype relationships
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DOI: 10.1002/humu.24483
Abstract: ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype–phenotype correlation has not been established. Potentially pathogenic ADAMTSL4… read more here.
Keywords: adamtsl4 variants; congenital ectopia; ectopia lentis; genotype phenotype ... See more keywords
Trends and characteristics of congenital ectopia lentis in China.
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DOI: 10.18240/ijo.2018.09.19
Abstract: AIM To elucidate the trends and characteristics of congenital ectopia lentis (CEL) in southern China. METHODS CEL patients from China admitted to Zhongshan Ophthalmic Center (ZOC) from January 2006 to December 2015 were recruited in… read more here.
Keywords: congenital ectopia; trends characteristics; ectopia lentis; characteristics congenital ... See more keywords