Open AccessA Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping
Author(s) -
Peter Charbel Issa,
Martin Gliem,
Imran H. Yusuf,
Johannes Birtel,
Philipp L. Müller,
Elisabeth Mangold,
Susan M. Downes,
Robert E. MacLaren,
Christian Betz,
Hanno J. Bolz
Publication year - 2019
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.18-26415
Subject(s) - exon , phenotype , genetics , mutation , retinal , biology , ophthalmology , medicine , gene
To report the clinical and molecular findings in patients with retinal dystrophy associated with the c.783G>A variant in CDHR1.
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