Associated Papers
Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
August AH et al.
American Journal of Ophthalmology Case Reports, 2025
Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.
Xing D et al.
Bmc Ophthalmology, 2020
33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
Rim JH et al.
Biomolecules, 2020
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Aldahmesh MA et al.
Human Mutation, 2013
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