Xeroderma pigmentosum

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Xeroderma pigmentosum is an autosomal recessive disorder due to defective DNA repair.[1]

Associations

References

  1. Ramkumar, HL.; Brooks, BP.; Cao, X.; Tamura, D.; Digiovanna, JJ.; Kraemer, KH.; Chan, CC.. "Ophthalmic manifestations and histopathology of xeroderma pigmentosum: two clinicopathological cases and a review of the literature.". Surv Ophthalmol 56 (4): 348-61. doi:10.1016/j.survophthal.2011.03.001. PMID 21684361.