DDX58 and Classic Singleton-Merten Syndrome
DDX58 and Classic Singleton-Merten Syndrome
About this item
Full title
Author / Creator
Publisher
New York: Springer US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Springer US
Subjects
More information
Scope and Contents
Contents
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
DDX58
has been described in associa...
Alternative Titles
Full title
DDX58 and Classic Singleton-Merten Syndrome
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6394545
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6394545
Other Identifiers
ISSN
0271-9142
E-ISSN
1573-2592
DOI
10.1007/s10875-018-0572-1
