A Recurrent ACAA2 Variant Causes a Dominant Syndrome of Lipodystrophy, Lipomatosis, Infantile Steatohepatitis and Hypoglycemia

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

Language

English

Publication Date

11-4-2025

Journal

Journal of Clinical Investigation

DOI

10.1172/JCI198888

PMID

41186989

Published Open-Access

no

Recommended Citation

Simha, Vinaya; LoPiccolo, Mary Kate; Platt, Anna; et al., "A Recurrent ACAA2 Variant Causes a Dominant Syndrome of Lipodystrophy, Lipomatosis, Infantile Steatohepatitis and Hypoglycemia" (2025). Faculty, Staff and Student Publications. 2920.
https://digitalcommons.library.tmc.edu/uthmed_docs/2920