Associated Papers
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
Familial or sporadic porokeratosis as an autoinflammatory keratinization disease.
Takeichi T et al.
The Journal of Dermatology, 2019
Novel MBTPS2 mutation causes a mild phenotype of ichthyosis follicularis with atrichia and photophobia syndrome in a Chinese pedigree.
Yang Z et al.
The Journal of Dermatology, 2019
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