Associated Papers
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX et al.
Human Mutation, 2022
NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield.
Overwater E et al.
European Journal of Medical Genetics, 2017
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation.
Collin GB et al.
Human Molecular Genetics, 2015
ADAMTSL4-associated isolated ectopia lentis: Further patients, novel mutations and a detailed phenotype description.
Neuhann TM et al.
American Journal of Medical Genetics. Part A, 2015
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