Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
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DOI: 10.1186/s13023-022-02244-6
Abstract: Background Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is… read more here.
Keywords: identification three; autosomal recessive; three novel; stickler syndrome ... See more keywords