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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...

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Detalles Bibliográficos
Autores principales:	Su, Ying, Ran, Chun-Qiong, Liu, Zhe-Long, Yang, Yan, Yuan, Gang, Hu, Shu-Hong, Yu, Xue-Feng, He, Wen-Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Genetics
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

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