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...

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Detalles Bibliográficos
Autores principales: Jiang, Yanyun, Jin, Hongzhong, Zeng, Yueping
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Clinical Reports
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

Internet

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

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