Entity family
Named diseases, disorders, syndromes, injuries, and health conditions. Examples include epilepsy, diabetes, stroke.
This disease is selected. Its supporting articles are shown below.
…2 families, 141 patients). PRPH2 (95.0% AD) was associated with retinitis pigmentosa (RP) and macular dystrophies. ABCC6 (91.3% AR) was linked to ps…
…ld man with bilateral PK performed over 20 years previously for macular dystrophy presented with recurrent stromal disease and endothelial decomp…
…Background Diffuse gastric cancer (DGC) is the most common manifestation in germline CTNNA1 variant car…
…ensity (12.4%) than the macular dystrophy phenotype (15.6%). In ABCA4, the most severe phenotype and genotype groups had significantl…
…pigmentosa, 25.3/100 000; X-linked retinoschisis, 10.7/100 000; Usher syndrome, 8.9/100 000; choroideremia, 7/100 000 and cone or cone-rod dys…
…tis pigmentosa (187; 46.4%), macular dystrophy (115; 28.5%) and cone rod dystrophy (41; 10.2%) were the most common clinical diagnoses. Among all …