Abstract
Xeroderma pigmentosum (XP) is an autosomal recessively transmitted, intractable photosensitive disorder with deficient post-ultraviolet (UV) DNA repair. Patients with XP are highly predisposed to skin cancers on sun-exposed areas. Approximately 30% of XP patients develop progressive neurological abnormalities, although the cause of these changes is unknown.
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Moriwaki, S. (2019). Prenatal Diagnosis of Xeroderma Pigmentosum. In: Nishigori, C., Sugasawa, K. (eds) DNA Repair Disorders. Springer, Singapore. https://doi.org/10.1007/978-981-10-6722-8_6
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DOI: https://doi.org/10.1007/978-981-10-6722-8_6
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