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    1. An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy Dermatology · 2000 · 24 citations
    2. 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
    3. Position effect on <i>FGF13</i> associated with X-linked congenital generalized hypertrichosis Proceedings of the National Academy of Sciences of the United States of America · 2013 · 44 citations
    4. Bloch-Sulzberger Syndrome: A Rare X-Linked Dominant Genetic Disorder in a Newborn Cureus · 2023 · 1 citations
    5. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    6. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    7. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    8. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    9. An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia Cureus · 2024
    10. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    11. Substrate specific sulfatase activity from hair follicles in recessive X-linked ichthyosis Acta Dermato Venereologica · 1987 · 8 citations
    12. EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia Genes · 2024
    13. Genetic correlation analysis does not associate male pattern baldness with COVID-19 Journal of The American Academy of Dermatology · 2021 · 4 citations
    14. Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes 2011
    15. Clinical, Hormonal, Behavioral, and Genetic Characteristics of Androgen Insensitivity Syndrome in a Brazilian Cohort: Five Novel Mutations in the Androgen Receptor Gene The Journal of Clinical Endocrinology & Metabolism · 2003 · 174 citations
    16. Familial congenital generalized hypertrichosis Indian journal of dermatology, venereology, and leprology · 2013 · 1 citations
    17. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    18. Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · 2014 · 87 citations
    19. 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
    20. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    21. Association Between Retinoid X Receptor Gene Variants and Dyslipidemia Risk in an Iranian Population Cureus · 2021 · 1 citations
    22. A novel EDA variant that causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family BMC Pregnancy and Childbirth · 2025
    23. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    24. Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome in a Saudi Child: A Case Report Clinical Cosmetic and Investigational Dermatology · 2023
    25. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    26. Protoporphyrin IX: the Good, the Bad, and the Ugly Journal of Pharmacology and Experimental Therapeutics · 2015 · 138 citations
    27. Unraveling the Link Between Ectodermal Disorders and Primary Immunodeficiencies International reviews of immunology · 2015 · 9 citations
    28. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    29. New developments in the molecular treatment of ichthyosis: review of the literature Orphanet journal of rare diseases · 2022 · 21 citations
    30. Keratosis Follicularis Spinulosa Decalvans. What Syndrome Is This? Pediatric dermatology · 2005 · 5 citations