Associated Papers
Rare loss-of-function variants in matrisome genes are enriched in Ebstein's anomaly.
Zhou Z et al.
Hgg Advances, 2024
38006208 (PubMed )
Supplement: mmc1.pdf
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
Markova T et al.
Molecular Genetics & Genomic Medicine, 2021
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