A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome
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DOI: 10.1002/mgg3.812
Abstract: 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 gene… read more here.
Keywords: ichthyosis follicularis; follicularis alopecia; mbtps2; alopecia photophobia ... See more keywords