Associated Papers
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
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
Ectopia lentis et pupillae in four generations caused by novel mutations in the ADAMTSL4 gene.
Sharifi Y et al.
The British Journal of Ophthalmology, 2013
A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis.
Chandra A et al.
Investigative Ophthalmology & Visual Science, 2012
Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients.
Aragon-Martin JA et al.
Human Mutation, 2010
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