| xeroderma pigmentosum |
A genetic syndrome with extreme sensitivity to sunlight leading to progressive disfigurement and skin cancer. There are eight subgroups, some of which exhibit progressive neurological deterioration, both motor and cognitive. Inheritance is autosomal recessive with an incidence of 1 in 100,000. See also de Sanctis-Cacchione syndrome.
출처: www.childrenwithchallenges.net/definitions/XYZ.htm...
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| xeroderma pigmentosum |
a rare genetic defect in ultraviolet radiation induced dna repair mechanisms; characterized by severe sensitivity to all sources of uv radiation (especially sunlight). xeroderma pigmentosum is categorized in complementation groups according to the capacity of the body to repair dna. groups a, c, d and variant make up over 90% of xp cases. group a, for example, has the lowest level of dna repair and the most neurological manifestations.
출처: ipp.boku.ac.at/pz/ref/glossar1.html
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