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IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response
Authors:Frank Oeffner  Rudolf Happle  Regina C Betz  Ulrike Neidel  Silke Redler  Aïcha Salhi  Christian Weirich
Institution:1 Department of Human Genetics, Philipps-Universität, Marburg 35037, Germany
2 The Northern Clinical School, University of Sydney, St Leonard's NSW 2065, Australia
3 Department of Dermatology, Philipps-Universität, Marburg 35037, Germany
4 Department of Human Genetics, Rheinische Friedrich-Wilhelms-Universität, Bonn 53111, Germany
5 Department of Dermatology, University of Algiers, Algiers 16030, Algeria
6 Department of Dermatology, Hospital del Niño Jesús, San Miguel de Tucumán 4000, Argentina
7 Dermatologist, C/Violeta 9D3, Fuengirola (Málaga) 29640, Spain
8 Department of Dermatology, Hospital Carlos Haya, Málaga 29010, Spain
Abstract:
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