Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss

BACKGROUND: Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an obligate glycine within the Gly‐Xaa‐Yaa amino acid sequence repeat region of...

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Detalles Bibliográficos
Autores principales: Nixon, Thomas, Richards, Allan J., Lomas, Adrian, Abbs, Stephen, Vasudevan, Pradeep, McNinch, Annie, Alexander, Philip, Snead, Martin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507023/
https://www.ncbi.nlm.nih.gov/pubmed/32578940
http://dx.doi.org/10.1002/mgg3.1354

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507023/
https://www.ncbi.nlm.nih.gov/pubmed/32578940
http://dx.doi.org/10.1002/mgg3.1354

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