Cockayne syndromeGene: ERCC4
Two cases reported in OMIM for Xeroderma pigmentosum, type F/Cockayne syndrome, and it is a confirmed DD gene for Xeroderma pigmentosum, group F.
16 Aug 2016, 10:32 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Xeroderma pigmentosum, type F Cockayne syndrome, 278760
Phenotypes for ERCC4 were set to Xeroderma pigmentosum, type F Cockayne syndrome, 278760
ERCC4 was added to Cockayne syndromepanel. Sources: Radboud University Medical Center, Nijmegen
ERCC4 was created by ellenmcdonagh