Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

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 consanguineo...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8528321/
https://www.ncbi.nlm.nih.gov/pubmed/34669720
http://dx.doi.org/10.1371/journal.pone.0258777

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