Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

ConclusionThis case further expands the mutational and phenotypic spectrum ofCOL9A‐associated STL with a more severe presentation.

Source: Molecular Genetics & Genomic Medicine - February 11, 2021 Category: Genetics & Stem Cells Authors: Tatiana Markova, Peter Sparber, Artem Borovikov, Tatiana Nagornova, Elena Dadali Tags: CLINICAL REPORT Source Type: research