Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

    September 2003 in “ Journal of Investigative Dermatology ”
    Neil V. Whittock, Louise Izatt, Anúska Mann … Peter T. Clayton
    Studysummary This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
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