Archive Publication

Loss of function variants in PCYT1A causing spondylometaphyseal dysplasia with cone/rod dystrophy have broad consequences on lipid metabolism, chondrocyte differentiation, and lipid droplet formation

Julie Jurgens, Suming Chen, Nara Sobreira, Sarah Robbins, Arianna Franca Anzmann, Raha Dastgheyb, Saja S. Khuder, Julie Hoover-Fong, Courtney Woods, Felicity Collins, John Christodoulou, Guilherme Lopes Yamamoto, Débora Romeo Bertola, Wagner A. R. Baratela, Sophie D. Curie, Norman Haughey, Rosemary Cornell, David Valle