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View article: Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations Open
Erythrokeratodermia variabilis (EKV) is a rare genodermatosis characterized by well-demarcated erythematous patches and hyperkeratotic plaques. EKV is most often transmitted in an autosomal dominant manner. Until recently, only mutations i…
View article: Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation Open
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-s…
View article: Identification of a novel missense mutation in <i>NIPAL4 </i>gene: First 3D model construction predicted its pathogenicity
Identification of a novel missense mutation in <i>NIPAL4 </i>gene: First 3D model construction predicted its pathogenicity Open
Background The NIPAL4 gene is described to be implicated of Congenital Ichthyosiform Erythroderma (CIE). It encodes a magnesium transporter membrane‐associated protein, hypothetically involved in epidermal lipid processing and in lamellar …