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Case report: Autosomal recessive type 3 Stickler syndrome caused by compound heterozygous mutations in COL11A2
Background: 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 accor...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10279880/ https://www.ncbi.nlm.nih.gov/pubmed/37347055 http://dx.doi.org/10.3389/fgene.2023.1154087 |