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Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

BACKGROUND: Stickler syndrome (STL) is a clinically variable and genetically heterogeneous collagenopathy characterized by ophthalmic, auditory, skeletal, and orofacial abnormalities. STL is mainly inherited in an autosomal dominant pattern with mutations in the COL2A1, COL11A1, and COL11A2 genes. A...

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Detalles Bibliográficos
Autores principales:	Markova, Tatiana, Sparber, Peter, Borovikov, Artem, Nagornova, Tatiana, Dadali, Elena
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2021
Materias:	Clinical Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8104176/ https://www.ncbi.nlm.nih.gov/pubmed/33570243 http://dx.doi.org/10.1002/mgg3.1620

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