A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia
Vinaya Simha, … , Ralph J. DeBerardinis, Abhimanyu Garg
Vinaya Simha, … , Ralph J. DeBerardinis, Abhimanyu Garg
Published November 4, 2025
Citation Information: J Clin Invest. 2025. https://doi.org/10.1172/JCI198888.
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Research Letter In-Press Preview Endocrinology Genetics

A recurrent ACAA2 variant causes a dominant syndrome of lipodystrophy, lipomatosis, infantile steatohepatitis and hypoglycemia

Abstract

Authors

Vinaya Simha, Mary Kate LoPiccolo, Anna Platt, Rebecca J. Brown, Xandria Johnson, Deanna Alexis Carere, Colleen Donnelly, Matthew T. Snyder, Chao Xing, Thomas P. Mathews, Purva Gopal, Stephen C. Ward, Diana R. Tomchick, Anil K. Agarwal, Ralph J. DeBerardinis, Abhimanyu Garg

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