Associated Papers
Successful treatment of an MBTPS2-linked Olmsted syndrome patient using erlotinib.
Sadeghzadeh-Bazargan A et al.
Jaad Case Reports, 2026
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
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Fong K et al.
Clinical and Experimental Dermatology, 2015
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S et al.
Orphanet Journal of Rare Diseases, 2015
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.
Haghighi A et al.
The Journal of Investigative Dermatology, 2013
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