Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene.
Tatiana Vladimirovna MarkovaPeter A SparberArtem BorovikovTatiana NagornovaElena DadaliPublished in: Molecular genetics & genomic medicine (2021)
This case further expands the mutational and phenotypic spectrum of COL9A-associated STL with a more severe presentation.