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
A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome.
Jiang Y et al.
Molecular Genetics & Genomic Medicine, 2019
Expanding the phenotype of IFAP/BRESECK syndrome: a new case with severe hypogammaglobulinemia.
Corujeira S et al.
European Journal of Medical Genetics, 2013
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
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