Leemans, G

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