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    Research 6 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
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