A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Progressive corneal opacification can result from multiple etiologies, including corneal dystrophies or systemic and genetic diseases. We describe a novel syndrome featuring progressive epithelial and anterior stromal opacification in a brother and sister and their mildly affected father, with all three family members having sensorineural hearing l...
Alternative Titles
Full title
A Novel 13q12 Microdeletion Associated with Familial Syndromic Corneal Opacification
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10218699
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10218699
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes14051034
