CDHR1 mutations in retinal dystrophies
CDHR1 mutations in retinal dystrophies
About this item
Full title
Author / Creator
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
We report ophthalmic and genetic findings in patients with autosomal recessive retinitis pigmentosa (RP), cone-rod dystrophy (CRD) or cone dystrophy (CD) harboring potential pathogenic variants in the
CDHR1
gene. Detailed ophthalmic examination was performed in seven sporadic and six familial subjects. Mutation screening was done using a cust...
Alternative Titles
Full title
CDHR1 mutations in retinal dystrophies
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_0b654355fc954d1387d8ced6b493ce8b
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_0b654355fc954d1387d8ced6b493ce8b
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/s41598-017-07117-8
