Clinical variability of the GJB4:c.35G > A gene variant: a study of a large Brazilian erythrokeratodermia pedigree.
Renan Tironi Giglio de OliveiraDenise Maria ChristofoliniPaulo Ricardo CriadoEduardo Lacaz MartinsDavid P KelsellCarlos D'Apparecida Santos Machado FilhoPublished in: International journal of dermatology (2020)
Variants in GJB4 are classically associated with Erythrokeratodermia variabilis, but there is remarkable clinical heterogeneity. Our observation that the same variant caused different phenotypes within the same family corroborates clinical heterogeneity and suggests that other genes that compose the genetic background exert some influence on the disease phenotype.