Associated Papers
Expanding the Phenotypic and Genotypic Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731 Chinese Patients.
Cai XB et al.
Investigative Ophthalmology & Visual Science, 2019
Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.
Liu Y et al.
Journal of Thoracic Oncology : Official Publication of the International Association for the Study of Lung Cancer, 2018
Missense mutation in SLIT2 associated with congenital myopia, anisometropia, connective tissue abnormalities, and obesity.
Liu KY et al.
Orphanet Journal of Rare Diseases, 2018
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Feng CY et al.
Scientific Reports, 2017
Post-translationally abnormal collagens of prolyl 3-hydroxylase-2 null mice offer a pathobiological mechanism for the high myopia linked to human LEPREL1 mutations.
Hudson DM et al.
The Journal of Biological Chemistry, 2015
Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.
Khan AO et al.
Ophthalmic Genetics, 2015
Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
Jiang D et al.
Investigative Ophthalmology & Visual Science, 2014
Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
Guo H et al.
Clinical Genetics, 2014
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Mordechai S et al.
American Journal of Human Genetics, 2011
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