Article
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis.
PloS one - 1 Jan 2021
Charfeddine Cherine, Laroussi Nadia, Mkaouar Rahma, Jouini Raja, Khayat Olfa, Redissi Aladin, Mosbah Amor, Dallali Hamza, Chedly Debbiche Achraf, Zaouak Anissa, Fenniche Sami, Abdelhak Sonia, Hammami-Ghorbel Houda
Abstract excerpt
Erythrokeratodermia variabilis (EKV) is a rare disorder of cornification usually associated with dominant mutations in the GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3. Genetic heterogeneity of EKV has already been suggested. We investigated at the clinical and genetic level a consanguineous Tunisian family with 2 sisters presenting an autosomal recessive form of EKV to better characterize this disease....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.