Associated Papers
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
Caengprasath N et al.
Journal of Dermatological Science, 2023
A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol-regulated transcription and the endoplasmic reticulum stress response.
Strong A et al.
American Journal of Medical Genetics. Part A, 2022
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Novel mutation in MBTPS2 causes keratosis follicularis spinulosa decalvans in a large Chinese family.
Chen C et al.
International Journal of Dermatology, 2019
MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.
Lindert U et al.
Nature Communications, 2016
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Fong K et al.
Clinical and Experimental Dermatology, 2015
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