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
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D. Valle | N. Sobreira | J. Christodoulou | J. Hoover-Fong | Sarah M Robbins | G. Yamamoto | R. Cornell | W. Baratela | F. Collins | D. Bertola | N. Haughey | Suming Chen | S. Khuder | Raha M. Dastgheyb | J. Jurgens | A. Anzmann | Nara Sobreira | Courtney E. Woods | S. Curie | S. Curie