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Ichthyosis follicularis atrichia photophobia syndrome

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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Ichthyosis follicularis atrichia photophobia syndrome" returned 2 free, full-text research articles. First 2 results:
Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.
Last Updated: Jun 22, 2015

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 ...

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