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Paper Details

Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1.
Am J Ophthalmol
0
2024
Autosomal recessive MLIV, LECD, LECD-, LECD-associated variants, Lisch epithelial corneal dystrophy, MCOLN1, MCOLN1 haploinsufficiency, MCOLN1 variants, MLIV, corneal epithelial cells, corneal opacity, lysosomal storage disorder, missense variant, mucolipidosis IV, mucolipin 1, mucolipin 1) variant, neurodegeneration, patients, simplex, systemic disease
Author NameAffiliation
Karynne E PattersonUniversity of Washington
Jessica X ChongDepartment of Pediatrics and Brotman-Baty Institute for Precision Medicine, University of Washington
Jessica X ChongDepartment of Pediatrics and Brotman-Baty Institute for Precision Medicine, University of Washington
Michael J BamshadUniversity of Washington, USA. Department of Pediatrics and Brotman-Baty Institute for Precision Medicine
Michael J BamshadUniversity of Washington, USA. Department of Pediatrics and Brotman-Baty Institute for Precision Medicine
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