Article

Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2: a case report

2022-12-05

Abstract excerpt

<h4>Background: </h4> Stickler syndrome (SS) is a group of hereditary collagenopathies caused by a variety of collagen and non-collagen genes. Affected patients have characteristic manifestations involving ophthalmic, articular, craniofacial and auditory disorders. SS is classified into several subtypes according to clinical and molecular features. Type 3 SS is ultra-rare, known as non-ocular SS or otospondylomega...

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Literature Corpus work: b35c1a6f-17bf-5fc0-bc1b-e72b32fc2f94
DOI: 10.21203/rs.3.rs-2298863/v1

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