Associated Papers
A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2.
Migliavacca MP et al.
Revista Paulista De Pediatria : Orgao Oficial Da Sociedade De Pediatria De Sao Paulo, 2023
Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review.
Pietrzak A et al.
Orphanet Journal of Rare Diseases, 2022
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
Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.
Bornholdt D et al.
Human Mutation, 2013
IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient.
Pietrzak A et al.
European Journal of Dermatology : Ejd, 0
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