A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A, March ME, Cardinale CJ, Kim SE, Merves J, Whitworth H, Raffini L, Larosa C, Copelovitch L, Hou C, Slater D, Vaccaro C, Watson D, Zackai EH, Billheimer J, Hakonarson H
Am J Med Genet A. 2022 Feb;188(2):463-472. doi: 10.1002/ajmg.a.62537. Epub 2021 Oct 15.
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