Supported by a grant from the National Institutes of Health. Drs. Ganetzky and Mootha receive support from the Doliner family. Dr. Mootha is also supported by the Marriott Family Foundation and is an investigator at the Howard Hughes Medical Institute.provided by the authors are available with the full text of this article at NEJM.org.
We thank Children’s Hospital of Philadelphia staff members Donna DeVito for calorie calculations and helpful assistance and Lu Tan for providing control fibroblasts; and Sarah Calvo and Rahul Gupta of Massachusetts General Hospital and the Broad Institute for performing gnomAD analysis.
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