Related references
Note: Only part of the references are listed.Enhanced S-Cone Syndrome Spectrum of Clinical, Imaging, Electrophysiologic, and Genetic Findings in a Retrospective Case Series of 56 Patients
Emanuel R. de Carvalho et al.
OPHTHALMOLOGY RETINA (2021)
Findings from a Genotyping Study of over 1000 People with Inherited Retinal Disorders in Ireland
Laura Whelan et al.
GENES (2020)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Karin W. Littink et al.
GENES (2018)
Cone Vision Changes in the Enhanced S-Cone Syndrome Caused by NR2E3 Gene Mutations
Alexandra V. Garafalo et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2018)
Target 5000: Target Capture Sequencing for Inherited Retinal Degenerations
Adrian Dockery et al.
GENES (2017)
The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
AH Milam et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate
NB Haider et al.
NATURE GENETICS (2000)