UV-sensitive syndrome type 2
UV-sensitive syndrome type 2A rare autosomal recessive disorder (OMIM:614621) characterised by photosensitivity and mild freckling hypopigmented spots, but no skin cancer or neurologic defects.
Defects of ERCC8, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause UV-sensitive syndrome type 2.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.