Total: 1 |
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PMID (PMCID) | ||
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18637129 (2605190) |
MALE | |
Strict sun protection results in minimal skin changes in a patient with xeroderma pigmentosum and a novel c.2009delG mutation in XPD (ERCC2). | ||
Emmert S, Ueda T, Zumsteg U, Weber P, Khan SG, Oh KS, Boyle J, Laspe P, Zachmann K, Boeckmann L, Kuschal C, Bircher A, Kraemer KH. Exp Dermatol. 2009;18(1):64-8. |
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Symptoms of trichothiodystrophy (brittle hair with a tiger-tail banding pattern on polarized microscopy) or Cockayne syndrome (cachectic dwarfism, cataracts, pigmentary retinopathy and spasticity) were absent. |