ERCC2 mutations in two siblings with a severe trichothiodystrophy phenotype. [electronic resource]
- Journal of the European Academy of Dermatology and Venereology : JEADV Apr 2020
- 876-879 p. digital
Publication Type: Case Reports; Journal Article
1468-3083
10.1111/jdv.16134 doi
Fatal Outcome Humans Infant Male Mutation Phenotype Siblings Trichothiodystrophy Syndromes--genetics Xeroderma Pigmentosum Group D Protein