A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Abstract Background The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐scarring alopecia with variable severities. IFAP syndrome results from mutations...

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Bibliographic Details
Main Authors: Yanyun Jiang, Hongzhong Jin, Yueping Zeng
Format: Article
Language:English
Published: Wiley 2019-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
alopecia
ichthyosis follicularis
MBTPS2
photophobia
Online Access:https://doi.org/10.1002/mgg3.812

Internet

https://doi.org/10.1002/mgg3.812

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