Article

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

2021-05-17

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> 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 ultra-rare with only four families with biallelic <italic>COL9A3</italic> variants reported to date.<bold> </bold><bold...

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Literature Corpus work: 3c29090e-73da-5694-ad23-ed0086f0328b
DOI: 10.21203/rs.3.rs-526117/v1

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