Associated Papers
An intronic splice-site variant in MBTPS2 underlies ichthyosis follicularis with atrichia and photophobia syndrome.
Chen G et al.
The Journal of Dermatology, 2023
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 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
Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities.
Rasheed M et al.
Archives of Dermatological Research, 2017
Novel MBTPS2 missense mutation causes a keratosis follicularis spinulosa decalvans phenotype: mutation update and review of the literature.
Zhang J et al.
Clinical and Experimental Dermatology, 2016
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
27313609 (PubMed )
Supplement: 5614058.f1.pdf
Olmsted syndrome: clinical, molecular and therapeutic aspects.
Duchatelet S et al.
Orphanet Journal of Rare Diseases, 2015
Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.
Wang HJ et al.
Clinical and Experimental Dermatology, 2014
Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.
Oeffner F et al.
Experimental Dermatology, 2011
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