Xeroderma pigmentosum, group F

Common Name(s)

Xeroderma pigmentosum, group F

Xeroderma pigmentosum is an autosomal recessive disorder characterized by sun sensitivity and increased skin sensitivity to UV light, as well as an increased risk of skin cancer associated with a defect in nucleotide excision repair (NER). The XPF form of XP is usually relatively mild compared to other forms. Patients with XPF tend to have later onset of skin cancer. Some patients with XPF may develop neurologic impairment or growth defects, and are then classified as having Cockayne syndrome (summary by {4:Kashiyama et al., 2013}). For a general phenotypic description and a discussion of genetic heterogeneity of xeroderma pigmentosa, see XPA ({278700}), and of Cockayne syndrome, see CSA ({216400}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Xeroderma pigmentosum, group F" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.