Associated Papers
The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease.
Williams KM et al.
Clinical Genetics, 2025
Biallelic ADAMTSL4 variants in a Chinese cohort of congenital ectopia lentis: Implications for genotype-phenotype relationships.
Chen ZX et al.
Human Mutation, 2022
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
Knight LSW et al.
Molecular Vision, 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
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Reinstein E et al.
Molecular Genetics and Metabolism, 2016
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
Novel compound heterozygous mutations identified in ADAMTSL4 gene in a Chinese family with isolated ectopia lentis.
Zhou XM et al.
Acta Ophthalmologica, 2015
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