Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang D, Thompson JA, Charng J, Chelva E, McLenachan S, Chen SC, Zhang D, McLaren TL, Lamey TM, Constable IJ, De Roach JN, Aung-Htut MT, Adams A, Fletcher S, Wilton SD, Chen FK.
Huang D, et al.
Mol Genet Genomic Med. 2020 Jul;8(7):e1259. doi: 10.1002/mgg3.1259. Epub 2020 Apr 23.
Mol Genet Genomic Med. 2020.
PMID: 32627976
Free PMC article.