UV-sensitive syndrome 3

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UV-sensitive syndrome 32016-11-28T12:00:27+00:00

UV-sensitive syndrome 3 

DERMATOLOGY

An autosomal recessive dermopathy (OMIM:614640) characterised by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumours.

Molecular pathology Defects of UVSSA, which encodes a protein that interacts with the nucleotide excision repair complex to help repair UV light-induced DNA damage, cause UV-sensitive syndrome 3. 

References http://www.uniprot.org/uniprot/Q2YD98

http://www.omim.org/entry/614640

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