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Background Stickler syndrome is a rare, medically and molecularly heterogeneous connective tissue disorder. With just four families with biallelic COL9A3 variants reported to date, only four families with autosomal recessive STL are known. STL has three unrelated families clinically diagnosed with STL, with different novel biallelic loss of function variants in COL9A3.
Source link: https://doi.org/10.1186/s13023-022-02244-6
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