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