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    1. Significant Correction of Disease after Postnatal Administration of Recombinant Ectodysplasin A in Canine X-Linked Ectodermal Dysplasia American Journal of Human Genetics · 2007 · 109 citations
    2. Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening Journal of the American Academy of Dermatology · 2012 · 3 citations
    3. Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations International Journal of Dermatology · 2004 · 12 citations
    4. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    5. Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers. Journal of medical genetics · 1992 · 41 citations
    6. Ichthyosis American journal of clinical dermatology · 2003 · 147 citations
    7. Postgraduate seminar in pediatric dermatology Journal of The American Academy of Dermatology · 1982
    8. Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases Faculty of Health; Institute of Health and Biomedical Innovation · 2012
    9. 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
    10. 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
    11. An unusual presentation of X-linked adrenoleukodystrophy Endocrinology, Diabetes & Metabolism Case Reports · 2015 · 2 citations
    12. Characterization of X-Linked SNP genotypic variation in globally distributed human populations GenomeBiology.com (London. Print) · 2010 · 31 citations
    13. Dissection of genetic variation and evidence for pleiotropy in male pattern baldness Nature Communications · 2018 · 58 citations
    14. Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies Journal of dermatological science · 2023
    15. Complex X chromosome rearrangement associated with multiorgan autoimmunity Molecular cytogenetics · 2015 · 8 citations
    16. The Roles of EDA2R in Ageing and Disease Aging Cell · 2025 · 1 citations
    17. 7 Pathogenesis and Classification of Male Pattern Hair Loss (Androgenic Alopecia) Hair Transplantation · 2022
    18. Protoporphyrin IX: the Good, the Bad, and the Ugly Journal of Pharmacology and Experimental Therapeutics · 2015 · 138 citations
    19. Roles of steroid sulfatase in brain and other tissues Physiological Research · 2008 · 22 citations
    20. A Novel Mutation in the<i>MBTPS2</i>Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome Annals of Dermatology · 2022 · 1 citations
    21. Endocrinopathies, Atypical Blackwell's Five‐Minute Veterinary Consult Clinical Companion · 2018
    22. 42863 The association of milia-like calcinosis cutis, alopecia totalis and hyperthyroidism linked with the novel mutation for RBM28 Journal of the American Academy of Dermatology · 2023
    23. Multiorgan Dysfunction in a 7-Month-Old Boy With Developmental Delay and Poor Growth Pediatrics in Review · 2024
    24. The X Factor in Immunity: Sex Differences Shaped by the X Chromosome Immunological Reviews · 2026
    25. Concentration homeostasis and elements in hair and dried serum observed by X-ray fluorescence analysis using synchrotron radiation Journal of X-Ray Science and Technology · 2014 · 5 citations
    26. Two Cases of Danon Disease – A ‘Cousin’ of Pompe Disease Journal of Neuromuscular Diseases · 2015
    27. Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review Endocrinología y nutrición · 2015
    28. Trichothiodystrophy and fragile hair: the distinction between diagnostic signs and diagnostic labels in childhood hair disease British Journal of Dermatology · 2009 · 17 citations
    29. Perspectives of Kennedy's disease Journal of the Neurological Sciences · 2010 · 65 citations
    30. PKC downregulation upon rapamycin treatment attenuates mitochondrial disease Nature metabolism · 2020 · 26 citations