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
Published in 2019 by
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
and other authors.
,
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
and other authors.
