A Novel MBTPS2 Variant Associated With BRESHECK Syndrome Impairs Sterol-Regulated Transcription and the Endoplasmic Reticulum Stress Response

    Alanna Strong, Michael March, Christopher J. Cardinale … Hákon Hákonarson
    Studysummary This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
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    1. A Novel MBTPS2 Variant Associated With BRESHECK Syndrome Impairs Sterol-Regulated Transcription and the Endoplasmic Reticulum Stress Response American Journal of Medical Genetics Part A · 2021