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    1. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    2. Disorders of Keratinization 2014
    3. X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab Acta Dermato Venereologica · 2026
    4. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    5. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    6. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    7. Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis Acta dermato-venereologica · 2020 · 18 citations
    8. HAIR LOSS IN WOMEN British Journal of Dermatology · 1967 · 39 citations
    9. Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth Pediatrics in Review · 2024
    10. 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
    11. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review Endocrinología y nutrición · 2015
    12. Perspectives of Kennedy's disease Journal of the Neurological Sciences · 2010 · 65 citations
    13. Perturbations in fatty acid metabolism and collagen production infer pathogenicity of a novel MBTPS2 variant in Osteogenesis imperfecta Frontiers in endocrinology · 2023 · 1 citations
    14. Ectodermal Dysplasia: Variable Expressions Indian Journal of Dermatology · 2025
    15. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    16. Mechanical forces in skin disorders Journal of Dermatological Science · 2018 · 65 citations
    17. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    18. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome Case reports in genetics · 2015 · 7 citations
    19. Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis PLoS ONE · 2014 · 21 citations
    20. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    21. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    22. An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis Journal of Investigative Dermatology · 2006 · 97 citations
    23. Drugs linked to blepharitis, meibomian gland dysfunction, and chalazion: a real-world, population-based pharmacovigilance analysis Eye · 2025 · 1 citations
    24. A review of genotrichoses and hair pathology associated with inherited skin diseases British Journal of Dermatology · 2023 · 8 citations
    25. Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3 Journal of Investigative Dermatology · 2014 · 56 citations
    26. Biology and Genetics of Hair Annual Review of Genomics and Human Genetics · 2010 · 89 citations
    27. Current Genetics in Hair Diseases InTech eBooks · 2013 · 1 citations
    28. More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players Journal of Investigative Dermatology · 2006 · 35 citations
    29. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    30. A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies 2022 · 2 citations