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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| Auteurs principaux: | , , , , , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2021
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| Accès en ligne: | https://doaj.org/article/09f5de1e44634ec2bcdc6744e8287381 |
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