Associated Papers
Three New Cases of Autosomal Recessive Stickler Syndrome due to Biallelic Variants in the LOXL3 Gene.
Sánchez CMD et al.
Clinical Genetics, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2023
36917121 (PubMed )
Supplement: iovs-64-3-24_s006.xlsx › S3a-genotype
LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.
Laurentino TS et al.
International Journal of Molecular Sciences, 2019
LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.
Chan TK et al.
Clinical Genetics, 2019
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