Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.

@article{FuchsTelem2011ErythrokeratodermaVC,
  title={Erythrokeratoderma variabilis caused by a recessive mutation in GJB3.},
  author={Dana Fuchs-Telem and Yakov Pessach and Baruch Mevorah and Idit Shirazi and Ofer Sarig and Eli Sprecher},
  journal={Clinical and experimental dermatology},
  year={2011},
  volume={36 4},
  pages={406-11}
}
BACKGROUND Erythrokeratoderma variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30.3, respectively, and contribute to the formation of functional gap junctions in the epidermis. AIM To identify the molecular basis of recessive EKV in a consanguineous family of Middle Eastern origin. METHODS Direct sequencing and site-directed mutagenesis was used to search for the disease-causing… CONTINUE READING

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