Associated Papers
Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation.
Ennouri M et al.
Bmc Medical Genomics, 2022
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity.
Laadhar S et al.
Molecular Genetics & Genomic Medicine, 2020
Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4.
Ballin N et al.
Human Mutation, 2019
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