Exon-Trapping Assay Improves Clinical Interpretation of COL11A1 and COL11A2 Intronic Variants in Stickler Syndrome Type 2 and Otospondylomegaepiphyseal Dysplasia

Stickler syndrome (SS) is a hereditary connective tissue disorder affecting bones, eyes, and hearing. Type 2 SS and the SS variant otospondylomegaepiphyseal dysplasia (OSMED) are caused by deleterious variants in COL11A1 and COL11A2, respectively. In both genes, available database information indica...

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Detalles Bibliográficos
Autores principales: Micale, Lucia, Morlino, Silvia, Schirizzi, Annalisa, Agolini, Emanuele, Nardella, Grazia, Fusco, Carmela, Castellana, Stefano, Guarnieri, Vito, Villa, Roberta, Bedeschi, Maria Francesca, Grammatico, Paola, Novelli, Antonio, Castori, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766184/
https://www.ncbi.nlm.nih.gov/pubmed/33348901
http://dx.doi.org/10.3390/genes11121513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7766184/
https://www.ncbi.nlm.nih.gov/pubmed/33348901
http://dx.doi.org/10.3390/genes11121513

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