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1. 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
2. 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
3. A case of <i>MBTPS1</i>‐related disorder due to compound heterozygous variants in <i>MBTPS1</i> gene: Genotype–phenotype expansion and the emergence of a novel syndrome American journal of medical genetics. Part A · 2023
4. To grow or not to grow: Hair morphogenesis and human genetic hair disorders Seminars in Cell & Developmental Biology · 2013 · 43 citations
5. Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities Archives of dermatological research · 2017 · 3 citations
6. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
7. A Case of IFAP Syndrome with Severe Atopic Dermatitis Case reports in medicine · 2015 · 5 citations
8. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
9. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
10. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020

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