Article
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features.
The Journal of investigative dermatology - 1 Jul 2005
Fujimoto Mitsuo, Leech Suzanne N, Theron Therina, Mori Masato, Fawcett Heather, Botta Elena, Nozaki Yasuyuki, Yamagata Takanori, Moriwaki Shin-Ichi, Stefanini Miria, Momoi Mariko Y, Nakagawa Hidemi, Shuster Sam, Moss Celia, Lehmann Alan R
Abstract excerpt
Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are both rare autosomal recessive disorders with defects in DNA repair. They are usually distinct both clinically and genetically but in rare cases, patients exhibit the clinical characteristics of both diseases concurrently. We report two new phenotypically distinct cases of XP with additional features of CS (xeroderma pigmentosum and Cockayne syndrome...
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