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    1. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    2. Steroid-resistant nephrotic syndrome associated with steroid sulfatase deficiency—x-linked recessive ichthyosis: a case report and review of literature European Journal of Pediatrics · 2012 · 7 citations
    3. Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis Dermatology · 2000 · 16 citations
    4. Absence of Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis? Dermatology · 1999 · 9 citations
    5. Male-Pattern Baldness Is Common in Men with X-Linked Recessive Ichthyosis Dermatology · 2003 · 6 citations
    6. A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients BMC Medical Genetics · 2020 · 6 citations
    7. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    8. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    9. Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype Clinical Genetics · 2008 · 55 citations
    10. Disorders of Keratinization 2014
    11. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    12. Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines American Journal Of Pathology · 2018 · 21 citations
    13. Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review Clinical and Experimental Pediatrics · 2025
    14. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    15. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    16. Clinical report of a Holstein's calf with ichthyosis. Veterinary research forum · 2021
    17. Updated mutational spectrum and genotype-phenotype correlations in ichthyosis patients with ABCA12 pathogenic variants Institutional Repositories DataBase (IRDB) · 2024
    18. A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis PLoS ONE · 2012 · 13 citations
    19. Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome Journal of Pediatric Gastroenterology and Nutrition · 2011 · 44 citations
    20. Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes 1989 · 2 citations
    21. Ichthyosis Follicularis with Alopecia and Photophobia Syndrome (IFAP): A Case Report and Review of the Literature 2020
    22. LEKTI: Netherton Syndrome and Atopic Dermatitis InTech eBooks · 2013 · 1 citations
    23. Congenital and Hereditary Skin Diseases 2018
    24. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    25. Autosomal Ichthyosis with Hypotrichosis Syndrome Displays Low Matriptase Proteolytic Activity and Is Phenocopied in ST14 Hypomorphic Mice Journal of Biological Chemistry · 2007 · 101 citations
    26. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    27. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    28. Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition Endocrine Reviews · 2005 · 451 citations
    29. Roles of steroid sulfatase in brain and other tissues Physiological Research · 2008 · 22 citations
    30. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations