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Dr. Gearóid Tuohy

A small study of severe variants of ABCA4 reports a new genotype–phenotype correlation with Early-Onset Severe Retinal Dystrophy (EOSRD).

Researchers at the Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands, have reported a limited study for three probands showing that biallelic… Read More »A small study of severe variants of ABCA4 reports a new genotype–phenotype correlation with Early-Onset Severe Retinal Dystrophy (EOSRD).