Associated Papers
Expansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
August AH et al.
American Journal of Ophthalmology Case Reports, 2025
Zonulopathies as Genetic Disorders of the Extracellular Matrix.
Chipeta C et al.
Genes, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
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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