A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response

Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP syndrome) is a rare, X‐linked disorder caused by pathogenic variants in membrane‐bound transcription factor protease, site 2 (MBTPS2). Pathogenic MBTPS2 variants also cause BRESHECK syndrome, characterized by the IFAP triad plus intel...

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Detalles Bibliográficos
Autores principales: Strong, Alanna, March, Michael E., Cardinale, Christopher J., Kim, Sophia E., Merves, Jamie, Whitworth, Hilary, Raffini, Leslie, Larosa, Christopher, Copelovitch, Lawrence, Hou, Cuiping, Slater, Diana, Vaccaro, Courtney, Watson, Deborah, Zackai, Elaine H., Billheimer, Jeffrey, Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293288/
https://www.ncbi.nlm.nih.gov/pubmed/34655156
http://dx.doi.org/10.1002/ajmg.a.62537

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9293288/
https://www.ncbi.nlm.nih.gov/pubmed/34655156
http://dx.doi.org/10.1002/ajmg.a.62537

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