Autosomal Recessive Stickler Syndrome

Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1, it can rarely be inherited in a recessive fashion from variants in COL9...

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Detalles Bibliográficos
Autores principales: Nixon, Thomas R. W., Richards, Allan J., Martin, Howard, Alexander, Philip, Snead, Martin P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324312/
https://www.ncbi.nlm.nih.gov/pubmed/35885918
http://dx.doi.org/10.3390/genes13071135

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9324312/
https://www.ncbi.nlm.nih.gov/pubmed/35885918
http://dx.doi.org/10.3390/genes13071135

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