Deep Phenotyping of Patients with Xeroderma Pigmentosum and Trichothiodystrophy

    Melissa A. Levoska, Jennifer Pugh, Raina Bembry, P. Hanona, Sikandar G. Khan, E. D. Heller, George W. Nelson, M. Scheibye-Knudson, Deborah Tamura, John J. DiGiovanna, Kenneth H. Kraemer
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    Studysummary In this study, deep phenotyping of 68 patients with XPD gene defects successfully separated individuals by clinical diagnosis and survival status, potentially improving diagnosis and prognosis for xeroderma pigmentosum and trichothiodystrophy.
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