A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma
pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous …

In this study, we have established the molecular basis of xeroderma pigmentosum (XP) in
two unrelated Chinese families. In the first patient with consanguineous parents, we mapped …

Xeroderma pigmentosum (XP, OMIM 278700–278780) is a rare cutaneous autosomal
recessive disorder associated with severe morbidity and poor prognosis. In June 2010 issue …

Purpose: Xeroderma pigmentosum (XP) is rare autosomal recessive genetic disorder of
DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. We …

Background Xeroderma pigmentosum is an extremely serious genetic disorder defined by
sensitivity to sunlight, resulting in sunburn and pigment changes. If patients are not …

Background Most patients with xeroderma pigmentosum complementation group D (XP‐D)
from Western countries suffer from neurological symptoms, whereas Japanese patients …

Background Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder
characterized by extreme sensitivity to sunlight, freckle‐like pigmentation and a greatly …

Background Xeroderma pigmentosum (XP) is a rare autosomal, recessive, inherited
disease. XP patients exhibit high sensitivity to sunlight and increased incidence of skin …

Xeroderma pigmentosum (XP) is a rare, recessive hereditary disease characterized by
sunlight hypersensitivity and high incidence of skin cancer with clinical and genetic …

In our patient, DNA analysis revealed novel homozygous nonsense mutation in XPC c.
2167C> T, classifying her in the XP-C subtype. Following this, the lesions evolve to areas …