A novel <scp><i>MBTPS2</i></scp> variant associated with <scp>BRESHECK</scp> syndrome impairs <scp>sterol‐regulated</scp> transcription and the endoplasmic reticulum stress response
Alanna Strong(Children's Hospital of Philadelphia), Håkon Håkonarson(Children's Hospital of Philadelphia), Michael March(Children's Hospital of Philadelphia), Jamie Merves(Children's Hospital of Philadelphia), Cuiping Hou(Children's Hospital of Philadelphia), Courtney Vaccaro(Children's Hospital of Philadelphia), Leslie Raffini(Children's Hospital of Philadelphia), Elaine H. Zackai(Children's Hospital of Philadelphia), Christopher LaRosa(Children's Hospital of Philadelphia), Diana J. Slater(Genomics (United Kingdom)), Lawrence Copelovitch(Children's Hospital of Philadelphia), Deborah Watson(University of San Diego), Christopher J. Cardinale(Children's Hospital of Philadelphia), Sophia E. Kim(Children's Hospital of Philadelphia), Hilary Whitworth(Children's Hospital of Philadelphia), Jeffrey T. Billheimer(Translational Therapeutics (United States))
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