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Stickler Syndrome - Springer Nature

Summarized by Plex Scholar
Last Updated: 12 March 2022

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Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

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

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions