Rita Serra Matteo Floris Antonio Pinna Francesco Boscia Francesco Cucca Andrea Angius
Mol Vis
2019 Dec 2;25:814-820.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/31819343/
Cone-Rod Dystrophies / diagnosis Cone-Rod Dystrophies / genetics Eye Proteins / genetics Mutation / genetics
Cone-Rod Dystrophies / diagnosis Cone-Rod Dystrophies / genetics Eye Proteins / genetics Mutation / genetics Case Reports Adult Age of Onset Base Sequence Female Fluorescein Angiography Fluorescence Follow-Up Studies Fundus Oculi Humans Male Middle Aged Pedigree Eye Proteins PCARE protein, human
PMC6887784
31819343
Novel mutations in c2orf71 causing an early onset form of cone-rod dystrophy: A molecular diagnosis after 20 years of clinical follow-up
2019