Sewanee, Tennessee, United States of America
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    Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ 7 -isomerase cause X-linked dominant Conradi-Hunermann syndrome
    with N. Braverman, P. Lin, F. F. Moebius, C. Obie, H. Glossmann, W. R. Wilcox, D. L. Rimoin, M. Smith, L. Kratz, R. I. Kelley, and D. Valle
    X-linked dominant Conradi-Hunermann syndrome is one of a group of disorders with aberrant punctate calcification in cartilage, or chondrodysplasia punctata. This is most prominent around the vertebral column, pelvis and long bones in CPDX2. Additionally, CDPX2 patients may have asymmetric rhizomesomelia, sectorial cataracts, patchy alopecia, ichthyosis and atrophoderma. The phenotype in CDPX2 females ranges from stillborn to mildly affected individuals identified in adulthood. CDPX2 is presumed …Read more