Xeroderma pigmentosum
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DOI: 10.1016/j.annder.2018.09.004
Abstract: Xeroderma pigmentosum (XP) is a form of general dermatosis characterised by photo-induced cutaneous-ocular impairment and by skin cancers. In addition to these signs, there may also be neurological involvement. This disease is related to a… read more here.
Keywords: diagnosis; disease; pigmentosum; xeroderma pigmentosum ... See more keywords
Pronostic des patients porteurs de xeroderma pigmentosum dans un contexte de bas niveau socioéconomique
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DOI: 10.1016/j.annder.2019.09.245
Abstract: Introduction Le xeroderma pigmentosum (XP) reste relativement frequent dans certaines regions a fort taux de consanguinite et dans des familles relativement nombreuses, comme au Moyen-Orient et au Maghreb. Si les mesures pour une photoprotection appropriee… read more here.
Keywords: dans des; des cas; pigmentosum; xeroderma pigmentosum ... See more keywords
Autopsy findings and clinical features of a mild-type xeroderma pigmentosum complementation group A siblings: 40 years of follow-up
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DOI: 10.1016/j.jdcr.2018.04.017
Abstract: Xeroderma pigmentosum (XP) is an autosomal recessive disease characterized by abnormally accelerated photoaging skin symptoms for the patient's age caused by failure to repair DNA lesions damaged by ultraviolet radiation.1 Two sibling cases of Japanese… read more here.
Keywords: findings clinical; clinical features; pigmentosum; xeroderma pigmentosum ... See more keywords
Xeroderma pigmentosum in South Africa: Evidence for a prevalent founder effect
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DOI: 10.1111/bjd.18030
Abstract: Xeroderma pigmentosum (XP) is a rare, autosomal, recessive disease caused by defective repair of UV-induced DNA lesions due to various genetic defects affecting genes involved in the nucleotide excision repair (NER) pathway. Seven complementation groups… read more here.
Keywords: pigmentosum south; south africa; africa evidence; pigmentosum ... See more keywords