Conference Proceedings
Two siblings with near-complete nucleotide excision repair inactivation due to inherited ERCC1 deficiency displaying mild clinical features of xeroderma pigmentosum and Cockayne syndrome with severe liver impairment
K Apelt, AHM Kragten, BT Wilson, SM White, MS Luijsterburg
BRITISH JOURNAL OF DERMATOLOGY | WILEY | Published : 2019