Article
A genotype-phenotype correlation matrix for ABCA4 disease based on long-term prognostic outcomes.
JCI insight - 25 Jan 2022
Lee Winston, Zernant Jana, Su Pei-Yin, Nagasaki Takayuki, Tsang Stephen H, Allikmets Rando
Abstract excerpt
BackgroundMore than 1500 variants in the ATP-binding cassette, sub-family A, member 4 (ABCA4), locus underlie a heterogeneous spectrum of retinal disorders ranging from aggressive childhood-onset chorioretinopathy to milder late-onset macular disease. Genotype-phenotype correlation studies have been limited in clinical applicability as patient cohorts are typically small and seldom capture the full natural...
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