Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Molecular Genetics & Genomic Medicine
Huang, Di D; Thompson, Jennifer A JA; Charng, Jason J; Chelva, Enid E; McLenachan, Samuel S; Chen, Shang-Chih SC; Zhang, Dan D; McLaren, Terri L TL; Lamey, Tina M TM; Constable, Ian J IJ; De Roach, John N JN; Aung-Htut, May Thandar MT; Adams, Abbie A; Fletcher, Sue S; Wilton, Steve D SD; Chen, Fred K FK
Publication Date: 2020-07
Variant appearance in text: ABCA4: 6184_6187delGTCT