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Research 10 of 71

1. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin 2005 · 40 citations
2. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
3. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
4. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
5. A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2 Revista Paulista de Pediatria · 2023
6. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
7. Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant Human Genome Variation · 2026
8. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
9. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
10. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations

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