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    Research 30 of 31

    1. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2) Journal of Investigative Dermatology · 2003 · 22 citations
    2. Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata) Journal of Cutaneous Pathology · 2025
    3. Targeted overexpression of parathyroid hormone-related peptide in chondrocytes causes chondrodysplasia and delayed endochondral bone formation. Proceedings of the National Academy of Sciences · 1996 · 478 citations
    4. Cartilage oligomeric matrix protein (COMP) forms part of the connective tissue of normal human hair follicles Experimental dermatology · 2011 · 14 citations
    5. Secondary Cicatricial and other Permanent Alopecias Springer eBooks · 2008
    6. Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation The Laryngoscope · 2026
    7. The periosteal requirement and temporal dynamics of BMP2‐induced middle phalanx regeneration in the adult mouse Regeneration · 2017 · 31 citations
    8. What′s new in cicatricial alopecia? Indian Journal of Dermatology, Venereology and Leprology · 2013 · 16 citations
    9. Congenital atrichia and hypotrichosis World Journal of Pediatrics · 2011 · 11 citations
    10. Multiple Roles of Integrin-Linked Kinase in Epidermal Development, Maturation and Pigmentation Revealed by Molecular Profiling PLOS ONE · 2012 · 9 citations
    11. 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
    12. Inherited Disorders of the Hair Elsevier eBooks · 2013 · 2 citations
    13. Hair Transplantation in the Cicatricial Alopecias Hair therapy & transplantation · 2013 · 2 citations
    14. Hair Loss in Children Elsevier eBooks · 2018
    15. Secondary cicatricial and other permanent alopecias Dermatologic Therapy · 2008 · 20 citations
    16. Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty Journal of Pediatric Endocrinology and Metabolism · 2008 · 21 citations
    17. Emerging roles of Sox6 in the renal and cardiovascular system Physiological reports · 2020 · 15 citations
    18. SOX9 in organogenesis: shared and unique transcriptional functions Cellular and Molecular Life Sciences · 2022 · 10 citations
    19. Pigmentary mosaicism: An update Indian Journal of Dermatology · 2008 · 7 citations
    20. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    21. Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing Journal of Investigative Dermatology · 2008 · 99 citations
    22. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018 · 55 citations
    23. Targeting integrin pathways: mechanisms and advances in therapy Signal Transduction and Targeted Therapy · 2023 · 54 citations
    24. Sprouty/FGF signaling regulates the proximal–distal feather morphology and the size of dermal papillae Developmental Biology · 2012 · 50 citations
    25. Hair Growth Defects in Insig-Deficient Mice Caused by Cholesterol Precursor Accumulation and Reversed by Simvastatin 2010 · 46 citations
    26. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice PLOS genetics · 2020 · 23 citations
    27. Essential Role for Integrin-Linked Kinase in Melanoblast Colonization of the Skin Journal of Investigative Dermatology · 2019 · 14 citations
    28. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    29. First Symposium of Ichthyosis Experts 2013 · 1 citations
    30. Novel tissue mechanics-guided cellular flows drive the formation of feather follicles The EMBO Journal · 2026