Open AccessPhenotypic variability in patients with retinal dystrophies due to mutations in CRB1
Author(s) -
Robert Henderson,
Donna S. Mackay,
Zheng Li,
Phillip Moradi,
Panagiotis I. Sergouniotis,
I RussellEggitt,
Dorothy Thompson,
Anthony G. Robson,
G.E. Holder,
A. R. Webster,
A. T. Moore
Publication year - 2010
Publication title -
british journal of ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.016
H-Index - 153
eISSN - 1468-2079
pISSN - 0007-1161
DOI - 10.1136/bjo.2010.186882
Subject(s) - retinitis pigmentosa , locus heterogeneity , medicine , ophthalmology , genetics , retinal , genetic heterogeneity , phenotype , biology , gene
To identify CRB1 mutations in a large cohort of patients with recessive retinal dystrophies and to document the retinal phenotype and visual prognosis.
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