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Genetics and Rare Diseases



  • Nov 22, 2025
    Genetics and Rare Diseases /

    Upstream SOX9 Deletion in a 46,XY Girl with Acampomelic Campomelic Dysplasia and Absent Minipuberty

    Overview Campomelic dysplasia (CD) is a rare congenital disorder typically caused by pathogenic variants in SOX9. Classic features include skeletal anomalies, a bowed long bones…


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