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...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2019-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.812 |