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

2019 bioRxiv article

Jurgens, Julie, Chen, Suming, Sobreira, Nara, Robbins, Sarah, Anzmann, Arianna Franca, Dastgheyb, Raha, Khuder, Saja S, Hoover-Fong, Julie, and 3 others

Figure from 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
DOI