Correlation between novel compound heterozygous ADAMTSL4 variants and primary phenotypes of ectopia lentis et pupillae
Author:
Publisher
Elsevier BV
Subject
Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology
Reference40 articles.
1. A homozygous mutation in ADAMTSL4 causes autosomal-recessive isolated ectopia lentis;Ahram;Am. J. Hum. Genet.,2009
2. Role of ADAMTSL4 mutations in FBN1 mutation-negative ectopia lentis patients;Aragon-Martin;Hum. Mutat.,2010
3. A genotype-phenotype comparison of ADAMTSL4 and FBN1 in isolated ectopia lentis;Chandra;Investig. Ophthalmol. Vis. Sci.,2012
4. Craniosynostosis with ectopia lentis and a homozygous 20-base deletion in ADAMTSL4;Chandra;Ophthalmic Genet.,2013
5. Expansion of ocular phenotypic features associated with mutations in ADAMTS18;Chandra;Jama Ophthalmol.,2014
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