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A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
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 in the g...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687642/ https://www.ncbi.nlm.nih.gov/pubmed/31215178 http://dx.doi.org/10.1002/mgg3.812 |