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    1. Hereditary mucoepithelial dysplasia: unique histopathological findings in skin lesions Journal of cutaneous pathology · 2012 · 7 citations
    2. Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants 2021 · 6 citations
    3. The human keratins: biology and pathology Histochemistry and Cell Biology · 2008 · 1398 citations
    4. Skin Development and Disease: A Molecular Perspective Current Issues in Molecular Biology · 2024 · 15 citations
    5. Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot Human Genome Variation · 2026
    6. An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery Clinical Cosmetic and Investigational Dermatology · 2025
    7. Overexpression of HE4/WFDC2 gene in mice leads to keratitis and corneal opacity Open Life Sciences · 2025
    8. Tracing the cellular origin of cancer Nature Cell Biology · 2013 · 232 citations
    9. 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
    10. Involvement of Wnt, Eda and Shh at defined stages of sweat gland development Development · 2014 · 55 citations
    11. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome Orphanet Journal of Rare Diseases · 2011 · 71 citations
    12. Genetics of Inherited Ichthyoses and Related Diseases Acta Dermato Venereologica · 2020 · 66 citations
    13. Keratosis Follicularis Spinulosa Decalvans Associated with Acne Keloidalis Nuchae and Tufted Hair Folliculitis American Journal of Clinical Dermatology · 2008 · 35 citations
    14. Adaptive Triboelectric Nanogenerators for Long-Term Self-Treatment: A Review Biosensors · 2022 · 17 citations
    15. Ichthyosis follicularis alopecia and photophobia syndrome:Transient improvement with oral isotretinoin Indian journal of paediatric dermatology · 2015 · 3 citations
    16. TONGUE, RED 2006
    17. Cannabinoid Compounds as a Pharmacotherapeutic Option for the Treatment of Non-Cancer Skin Diseases Cells · 2022 · 3 citations
    18. The role of nuclear hormone receptors in cutaneous wound repair Cell Biochemistry and Function · 2014 · 68 citations
    19. Collagen triple helix repeat containing-1 promotes functional recovery of sweat glands by inducing adjacent microvascular network reconstruction <i>in vivo</i> Burns & Trauma · 2022 · 3 citations
    20. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
    21. Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets BoneKEy Reports · 2014 · 107 citations
    22. Hereditary 1,25-Dihydroxyvitamin D Resistant Rickets due to a Mutation Causing Multiple Defects in Vitamin D Receptor Function Endocrinology · 2004 · 67 citations
    23. Loose Anagen Hair as a Cause of Hereditary Hair Loss in Children Archives of Dermatology · 1992 · 55 citations
    24. Topical minoxidil therapy in hereditary androgenetic alopecia Archives of Dermatology · 1985 · 55 citations
    25. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor Molecular Genetics and Metabolism · 2009 · 50 citations
    26. Hereditary 1,25‐Dihydroxyvitamin D–Resistant Rickets Due to an Opal Mutation Causing Premature Termination of the Vitamin D Receptor Journal of bone and mineral research · 1998 · 47 citations
    27. Hereditary vitamin D-resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor Journal of Bone and Mineral Research · 2011 · 37 citations
    28. Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene Journal of Pediatric Endocrinology and Metabolism · 2010 · 36 citations
    29. A distinct gene close to the hairless locus on chromosome 8p underlies hereditary Marie Unna type hypotrichosis in a German family British Journal of Dermatology · 2000 · 36 citations
    30. Zinc‐responsive dermatosis in goats suggestive of hereditary malabsorption: two field cases Veterinary Dermatology · 2005 · 34 citations