DDX58 and Classic Singleton-Merten Syndrome

PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in...

Descripción completa

Detalles Bibliográficos
Autores principales: Ferreira, Carlos R., Crow, Yanick J., Gahl, William A., Gardner, Pamela J., Goldbach-Mansky, Raphaela, Hur, Sun, de Jesús, Adriana Almeida, Nehrebecky, Michele, Park, Ji Woo, Briggs, Tracy A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2018
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545/
https://www.ncbi.nlm.nih.gov/pubmed/30574673
http://dx.doi.org/10.1007/s10875-018-0572-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6394545/
https://www.ncbi.nlm.nih.gov/pubmed/30574673
http://dx.doi.org/10.1007/s10875-018-0572-1

Ejemplares similares