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English Journal
- Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
- Fong K1, Takeichi T1,2, Liu L3, Pramanik R1, Lee J1, Akiyama M2, McGrath JA1.
- Clinical and experimental dermatology.Clin Exp Dermatol.2015 Jul;40(5):529-32. doi: 10.1111/ced.12587. Epub 2015 Feb 16.
- Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a
- PMID 25683132
- PMID 26086412
- PMID 25981008
Japanese Journal
Related Links
- Folliculitis decalvans (FD) is a rare, chronic cicatricial (scarring) alopecia that classically presents as an expanding patch of alopecia with peripheral pustules on the scalp (). The cause of FD is unknown; it is speculated that the ...
- ... and hair follicle inflammatory disorders / scarring alopecia / scarring alopecia due to folliculitis / folliculitis decalvans Symptoms Bad smell, Burning, cosmetic disfigurement, Hair loss, Mild pain, folliculitis decalvans 0 ...
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参考
- http://omim.org/entry/612843
- http://omim.org/entry/308800